PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “Genes, Recessive”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 271 records · Page 15Linked to original sources
PubMed1982

[Occurrence of white Japanese field vole (Microtus montebelli) in the laboratory].

Some field voles with a white coat color were found in the breeding process in the laboratory, originated from a wild population captured in the riverside of the Arakawa in Okegawa, Saitama prefecture in Japan. They had been raised in a room and fed with pelleted feed for herbivore. An attempt was made to analyze their breeding records and mode of inheritance for the white coat color. As a result, the average litter size was 3.80 +/- 1.52, and the age of the first birth was 121 +/- 46.8 in days. This shows that most of the characters of the white voles are not different from those of the agouti ones. From the results of the mating tests, it might be concluded that an autosomal recessive gene was responsible for the appearance of the white coat color.

Animals↗
PubMed1988

Back-drawer: a behavioral mutant in Japanese quail.

The behavioral mutant "back-drawer" of Japanese quail is characterized by crouching and back-drawing action with the neck bending ventrally and occasional forward rolling. The abnormal behavior appears from hatching to 8 weeks of age. Back-drawers were classified into three types: (1) those showing the abnormality at hatching and dies within 5 days; (2) those showing the abnormality after 2 weeks of age and dies shortly thereafter; and (3) long survivors suffering from abnormal behavior, and showing gradual recovery. Back-drawer males are infertile when showing the abnormality, but can produce progeny after recovery. In contrast, the females tend to have a short life span and lack reproductive ability. Genetic analyses have indicated that this mutant character is controlled by 2 pairs of autosomal recessive genes.

Animals↗
PubMed1988

Genetical and histological studies on a mouse displaying microphthalmia and cataract.

A male mouse displaying bilateral microphthalmia and cataract was found among the offspring of pregnant Slc: ICR mouse treated intraperitoneally with 10 mg/kg methylnitrosourea on gestational day 4. This mutant has been maintained by brother-sister mating. By the mating test with normal Slc: ICR mice, this character was revealed to be inherited by an autosomal single recessive gene. Linkage test with the brown locus showed that this mutant gene is linked with the B gene and mapped on chromosome 4. The histological study of the eyes of adult mutant mice revealed various abnormalities all over the eyes, especially in the lens and neural retina. Embryologically, the mutant mice showed persistent connection between the lens vesicle and the surface ectoderm by a cellular stalk, and also the formation of retinal infolding, in the early stages of eye development. Both were considered to be responsible for the consequent abnormal development and degradation of the lens. These results suggest that the mutant mouse we found may be an allele of the dysgenetic lens (dyl) reported by Sanyal and Hawkins.

Animals↗
PubMed1988

Morphological and genetic characteristics of the open-eyelid mutant spontaneously occurring in NC-strain mice.

A heritable open-eyelid mutant which arose spontaneously in the NC strain of mouse in 1982 has been maintained as the NC-eob line through brother-sister matings. When the line exceeded the 12th generation, its reproductive capabilities were initially compared with those of the NC strain. Then eye abnormalities were investigated morphologically and genetically. Although most of the reproductive parameters in the NC-eob line were comparable to those in the NC strain, a significant decrease was observed in the mean number of pups delivered, and the viability of pups at 7 days of age was reduced to 55%. The eyelids of pups were widely open at birth. The exposed cornea dried within a few hours and a bloody exudate appeared around the margin of the eyelids. At 1 day of age, the eye opening was smaller in size and covered with a scab. Histological examination demonstrated apparent inflammatory changes in the cornea and conjunctiva. At 21 days of age, the eyes revealed opacity, a rough surface, and microphthalmia. Histological findings in the cornea, such as keratosis and vascularization, coincided with the eye opacity. The weight and size of the eyeballs were almost the same as those in normal NC pups. However, a significant decrease in the length of the palpebral rima was evident and this was considered to be the cause of the microphthalmia. The results of genetic analysis indicated that these eye abnormalities were caused by an autosomal recessive gene, eob. These results suggested that the eob gene might be a new mutation manifesting semi-lethality as a pleiotropic effect.

Animals↗
PubMed1989

A mutant rat with congenital skeletal abnormalities and polycystic kidneys.

The newly found mutant rat was characterized by small body size, shortened broad skull, slightly shortened limbs and flattened thorax due to shortened ribs and lordosis of thoracic vertebrae. Another distinctive feature of this mutant was polycystic kidneys. The reproductive ability was poor and it died at 6-11 months of age. These constitutional skeletal abnormalities and polycystic kidneys were found to be inherited by an autosomal recessive gene, to which the gene symbol, chi, was proposed.

Animals↗
PubMed1992

Inheritance and breeding of the waltzing mutant in the musk shrew (Suncus murinus, Insectivora) characterized by the circling and head-shaking behaviors.

A behavioral mutant was found in the laboratory-bred musk shrew (Suncus murinus). The affected shrews were characterized by the behaviors of tight circling in both directions and frequent head shaking in horizontal. They could definitely be identified by at least day 10 after birth. These abnormal behaviors were steady and permanent through life. Mating experiments demonstrated that the mutant character is expressed by a single autosomal recessive gene in homozygote with complete penetrance. The pedigree analysis indicated that the gene was derived from one heterozygous male captured in Ginowan city, Okinawa. The name, waltzing, was proposed for this mutant character with the gene symbol wz. An abnormality of the balance organ was predicted for a cause of the abnormal behaviors, since, besides the circling and head shaking behaviors, the affected shrews could not keep the body stretching but twisted it frequently when they were held up by the tail and further they could not keep the head on the water surface at all. Nevertheless, the affected shrews were almost normal in gestation period, litter size, weaning ratio and body weight in comparison with the phenotypically normal ones. The mutant shrews have been maintained as a closed colony, the WZ line involved more than 30 individuals at every one generation.

Animals↗
PubMed1992

Kinky coat, a new autosomal recessive mutation in the musk shrew, Suncus murinus.

A kinky-coat mutant was discovered at the fifth generation of the BAN strain originating from wild musk shrews (Suncus murinus) in Bangladesh. Mating experiments indicated that the kinky-coat character is controlled by a single autosomal recessive gene designated kc (kinky coat), which is not allelic to the gene ch (curly hair) previously reported in the Tr strain derived from wild musk shrews on Taramajima Island, Japan. Because the kc/kc homozygotes were fully fertile and viable, the kc gene should be useful as a genetic marker in linkage studies. In external appearance, homozygotes were characterized by curly vibrissae, somewhat unkept coat hair, and wavy long hair on the tail. Both the length and width of coat hair did not differ significantly between homozygous and normal shrews. Light microscopic observations showed that shafts of the kc coat hair are wavy and often have small swellings with disorganization of the medullary structure. Scanning electron microscopic examinations further revealed that the shafts of the vibrissae, coat hair, and tail hair have abnormalities such as longitudinal fissures, twists, and hollows. It is clear that these modifications caused waviness or curling of the shafts of the three kinds of hairs observed.

Alleles↗
PubMed1993

Establishment of inbred strain of long-haired golden hamster.

Features of a long-haired mutant and inheritance of mutation were investigated in the golden hamster (Mesocricetus auratus). The hair of adult long-haired hamsters was longest at the rump and flanks (approximately 70 mm) and was also unusually long at the neck (45 to 50mm). The hair length of males was more striking than that of females. Mating experiments indicated that an autosomal recessive gene is responsible for the inheritance of long hair. An albino long-haired hamster strain was established by continuous full-sib mating from F2 hybrids, descendants of (acromelanic albino x agouti long-haired) F1 progeny, and genetic homogeneity was confirmed by DNA fingerprinting. The long-haired strain was characterised by the fact that males grew larger than females, in contrast to the other strains of hamsters.

Animals↗
PubMed1997

Isolated maxillary bending in CL/FR strain mice: observation of craniofacial deformity and inheritance pattern.

OBJECTIVE: The CL/Fr mouse, known as a strain with spontaneous cleft lip and/or palate (CL/P), has been used as an animal model to investigate etiology in CL/P. METHOD: We examined a facial asymmetry mutant discovered in a CL/Fr mouse colony that was not associated with CL/P and was shown to be inheritable in subsequent generations. Facial asymmetry became apparent with postnatal growth, whereas it was not detectable at birth, and was termed "maxillary bending" (MB) based on the characteristic bending of the maxilla. RESULTS: As a result of selective breeding, an 'MB line', In which MB was observed in 21.68% (67/309) in addition to CL/P in 17.80% (55/309) of the offspring, was developed in the CL/Fr colony. In mating experiments between the MB line and C57BL/6J, all F1 progeny showed the normal phenotype. MB was observed in 0.72% (1/139) of the F2 generation, and the backcross generation showed segregation of MB in 6.25% (22/352) and CL/P in 1.42% (5/352). These instances suggested the occurrence of an additional mutation in the CL/Fr mouse genome controlled by an autosomal recessive gene with low penetrance. However, since the CL/Fr mouse primarily has a developmental deficiency in the maxilla, the possibility that CL/P and MB share common etiologic factors cannot be completely ruled out. CONCLUSION: The maxillary bending retains significance, as this mutant can serve as an animal model of abnormal facial growth. Elucidation of the etiologic relationship between MB and CL/P may provide clues to clarifying the deficiency in first branchial arch in the mouse.

Animals↗
PubMedDate not supplied

Formal genetics of isoniazid metabolism in man.

Complex segregation analysis of the isoniazid inactivator phenotype has shown the existence of a recessive gene and a multifactorial background. The phenotype is also influenced by age, sex and weight. The relevance of these findings to the grouping of individuals into slow and rapid inactivators is stressed.

Acetylation↗
PubMed1994

Empirical contribution to the question of sex-dependent inheritance of spatial ability.

The X-linked recessive gene hypothesis, a theory to predict the mode of genetic inheritance of spatial ability, was tested using a new Rasch-calibrated space test, the Three-dimensional Cube Test (Gittler, 1990). This allowed solving the homogeneity problem (insufficient unidimensionality of test material) by which earlier research in this field was affected. The empirical correlations from our sample of 134 families were compared with the theoretically predicted values. Present data do no corroborate the model; however, the problems of its general falsification are discussed. The fact that differences in performance in favour of males exist in the parental generation but not in the filial generation accentuates the importance of environmental factors.

Adolescent↗
PubMed1983

Further evidence on the inheritance of halothane reaction in pigs.

One thousand six hundred forty-one Pietrain, 163 Minnesota No. 1 and 158 Pietrain X Minnesota No. 1 crosses and their reciprocals were tested for porcine stress syndrome susceptibility using halothane gas between September 1975 and July 1981. The frequency of reactors in the Pietrain breed was 93.9%. Matings of reactor males to reactor females within the Pietrain breed resulted in 632 reactor and 14 nonreactor offspring. A boar, judged to be nonpenetrant on the basis of the halothane reaction of his parents and littermates, was shown by progeny test to be homozygous for the halothane allele. These data indicate that halothane sensitivity is due to a single autosomal recessive gene with a penetrance of about 98% and a frequency of .98 in this Pietrain herd. No halothane reactors were found in the 163 Minnesota No. 1 pigs tested. Only one Pietrain X Minnesota No. 1 gilt reacted positively to halothane and later, the same gilt produced both positive and negative offspring, indicating that she was most likely heterozygous. Blood group typing of 107 crossbred pigs provided insufficient information to predict accurately the halothane reaction, although some associations were observed between the A and H loci and halothane sensitivity. The time taken by Pietrain pigs to react to halothane was measured and recorded. Analysis of these data showed that progeny of some sires had significantly faster reaction times than others and that reaction time had decreased over the years. These results as well as other data presented here indicate the existence of certain modifier genes that influence halothane reaction.

Animals↗
PubMed1980

An autosomal recessive blind mutant in the chicken.

A type of blindness due to lack of rods and cones in the retina was found to be controlled by a single autosomal recessive gene, rc. The mutation was first identified in the second generation descendants of a male carrying an ethyl methanesulfonate (EMS) induced chromosome translocation involving one arm of the Z sex chromosome and the long (q) arm of chromosome 3. A linkage test between the locus causing the blindness and the translocation break-point on chromosome 3 was not significant. There is no proof that the mutation was EMS induced.

Animals↗
PubMed1982

"Porcupine": a feather structure mutation in Japanese quail.

A type of feather structure abnormality in Japanese quail resulting from the failure of barbs to uncoil was found to be controlled by a single autosomal recessive gene, pc (porcupine). The mutation was first identified in two birds from a population homozygous for white plumage color. Porcupine quail have poor egg production, lower fertility, and higher embryonic and chick mortality compared to wildtype or heterozygotes.

Animals↗
PubMed1982

Short barb: a feather structure mutation in Japanese quail.

A type of feather structure abnormality in Japanese quail resulting in shortened barbs on contour feathers was found to be controlled by a single autosomal recessive gene, sh (short barb). The mutation was first identified in a full-sib family from the University of British Columbia wild type line. Unlike other feather structure mutations in Japanese quail reported previously in literature, the short barb mutation is not associated with poor reproduction.

Animals↗
PubMed1976

Vaginal septa in mice: incidence, inheritance, and effect on reproductive, performance.

Dorso-ventral vaginal septa were observed in 38% of the recently weaned BALB/cJ female mice in the production colony at The Jackson Laboratory. The frequency of septa in two other BALB/c substrains and eight different inbred strains ranged from 0 to 8%. The vaginal anomaly was similar regardless of genetic background although individual variations were observed. The remainder of the reproductive tract was normal. Microscopically, the septum consisted of a fibrous partition covered by normal epithelium. Genetic analysis was undertaken by outcrossing septate BALB/cJ females to C57BL/6J, DBA/2J, or BALB/cBy males. Examination of female F1 and F2 progeny indicated more than one recessive gene was involved and genetic background influenced expression of these genes. Reproductive performance of septate and nonseptate BALB/cJ females was compared using several criteria. Fewer septate females were fertile, but the fecundity of fertile septate females was not affected.

Animals↗
PubMed1975

Chronic granulomatous disease: an inherited disorder of phagocytosis in a Maori ancestry.

Chronic granulomatous disease, in which abnormal susceptibility to infection is caused by an inherited defect in phagocytic cells, has been diagnosed in three brothers. Two brothers had repeated bacterial infections of the skin, superficial lymph nodes and lungs from infancy and died aged 27 months and 13 months. Characteristic suppurating granulomata were found in many organs. The diagnosis was established in both during life, and in the third asymptomatic brother shortly after birth, by studies of phagocytic function which included tests for nitroblue-tetrazolium reduction, hexose monophosphate shunt activity and bactericidal capacity. Their mother and a maternal aunt, both Maoris with no known Caucasian ancestry, were identified as carriers of the presumed sex-linked recessive gene. The clinical features of the disease and the laboratory methods for diagnosis are described.

Child, Preschool↗