About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:3620827
Allelic
Composition
Gja1M1Jrt/Gja1+
Genetic
Background
involves: C3H/HeJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gja1M1Jrt mutation (0 available); any Gja1 mutation (35 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• seen in 46 of 170 heterozygotes; time not specified

growth/size/body
• have small, white upper and lower incisors that are prone to breakage, instead of the normal yellow, enamel covered teeth
• very thin, porous enamel layer that is almost non-existent in some areas
• lower incisors are prone to breakage

limbs/digits/tail
• digit 1 (pollex) on the forelimb consists of a thickened, malformed bone
• the middle phalange on the last digit of both the forelimb and hindlimb is absent
• variable fusion of digits 2, 3, and 4 on all limbs; fusion of soft tissue but not bone

skeleton
• exhibit skull shape alterations, including, depression across the bridge of the nose and eye socket, and an outward displacement of the frontal and occipital bones
• have small, white upper and lower incisors that are prone to breakage, instead of the normal yellow, enamel covered teeth
• very thin, porous enamel layer that is almost non-existent in some areas
• lower incisors are prone to breakage
• the middle phalange on the last digit of both the forelimb and hindlimb is absent

craniofacial
• exhibit skull shape alterations, including, depression across the bridge of the nose and eye socket, and an outward displacement of the frontal and occipital bones
• have small, white upper and lower incisors that are prone to breakage, instead of the normal yellow, enamel covered teeth
• very thin, porous enamel layer that is almost non-existent in some areas
• lower incisors are prone to breakage

cardiovascular system
• pronounced reduction in myocardial gap junctions
• exhibit small, multifocal lesions of myocardial mineralization
• patent foramen ovale is seen in 2 of 5 mutants
• mild fibrosis
• 2 of 9 exhibit abnormal cardiac conduction and/or contraction defects
• 50-60 week old mutants exhibit reduced right ventricular fractional shortening and diastolic wall thickness, suggesting development of right ventricular failure with aging
• 50-60 week old mutants exhibit elevated pre-ejection and ejection times of the left ventricle, increased diastolic chamber dilation, and reduced relative diastolic wall thickness
• premature ventricular contractions (ectopic beats) occurred during 1-min ECG recording in one heterozygote
• 2 of 9 exhibit abnormal cardiac conduction and/or contraction defects
• prolonged PR interval and elevated myocardial performance index in one heterozygote
• prolonged QRS duration occurred during 1-min ECG recording in one heterozygote

muscle
• pronounced reduction in myocardial gap junctions
• exhibit small, multifocal lesions of myocardial mineralization
• 2 of 9 exhibit abnormal cardiac conduction and/or contraction defects
• 50-60 week old mutants exhibit reduced right ventricular fractional shortening and diastolic wall thickness, suggesting development of right ventricular failure with aging
• 50-60 week old mutants exhibit elevated pre-ejection and ejection times of the left ventricle, increased diastolic chamber dilation, and reduced relative diastolic wall thickness

vision/eye
• 2 of 4 mice that have corneal opacity also have iris malformations
• seen in 2 of 4 mutants that have corneal opacity
• seen in 4 of 16 mutants at 5-34 weeks of age

hematopoietic system
• bone marrow atrophy and associated hypocellularity in conjunction with increased adipogenesis is seen in young mice (8 weeks) and progresses with age (17-51 weeks)
• frequency of most mature hematopoietic lineages and their progenitors within the bone marrow are increased
• bone marrow side population cells are increased 2.4-fold at 15 weeks of age and 3.5-fold at 57-62 weeks of age
• bone marrow hypocellularity
• erythroblasts and their progenitors are decreased in total number and frequency

immune system

behavior/neurological
N
• do not detect weakness of limbs or abnormal gait

hearing/vestibular/ear
N
• do not detect any hearing abnormalities

reproductive system
• at P1, mutant ovaries contain normal numbers of germ cells; however, the numerous gap junction 'plaques' present in wild-type ovaries, are rarely found in mutant ovaries
• mutant granulosa cells display aberrant phosphorylation and trafficking of Cx43 protein: whereas the abundance of total protein is not significantly altered, the phosphorylated P1 and P2 forms are significantly reduced, and very few gap junction plaques are observed
• mutant granulosa cells exhibit a reduced proliferation rate relative to wild-type cells
• TUNEL analysis indicated a significant increase of granulosa cell apoptosis in the antral follicles of mutant ovaries
• ovaries of sexually mature female mutants contain significantly fewer pre-ovulatory follicles at proestrus than wild-type females
• however, no significant differences in the number of early antral follicles are observed
• significantly fewer oocytes are collected from the oviducts of mutant females (19.6 +/- 9.5) relative to wild-type females (60.0 +/- 3.8) after priming with eCG and hCG
• however, after in vitro fertilization, mutant oocytes are able to develop to the two-cell stage at a frequency similar to that of wild-type oocytes
• in vitro, mutant oocytes are equally as competent as wild-type oocytes in undergoing the first meiotic division to produce the first polar body
• the pregnancy rate of mutant females mated with wild-type males is significantly lower (23.5%) than that of wild-type females (83.9%)
• after mating with wild-type males, mutant females show a significant reduction in mean litter size relative to wild-type females (3.0 +/- 0.2 vs 7.9 +/- 0.3 pups/litter, respectively)
• only ~16% of pups born to mutant females survive beyond P1, at least partly due to a existing lactation defect

endocrine/exocrine glands
• at P1, mutant ovaries contain normal numbers of germ cells; however, the numerous gap junction 'plaques' present in wild-type ovaries, are rarely found in mutant ovaries
• mutant granulosa cells display aberrant phosphorylation and trafficking of Cx43 protein: whereas the abundance of total protein is not significantly altered, the phosphorylated P1 and P2 forms are significantly reduced, and very few gap junction plaques are observed
• mutant granulosa cells exhibit a reduced proliferation rate relative to wild-type cells
• TUNEL analysis indicated a significant increase of granulosa cell apoptosis in the antral follicles of mutant ovaries
• ovaries of sexually mature female mutants contain significantly fewer pre-ovulatory follicles at proestrus than wild-type females
• however, no significant differences in the number of early antral follicles are observed

integument

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
oculodentodigital dysplasia DOID:0060291 OMIM:164200
OMIM:257850
J:101733


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
02/12/2019
MGI 6.13
The Jackson Laboratory