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Phenotypes Associated with This Genotype
Genotype
MGI:3620841
Allelic
Composition
Gja1M1Jrt/Gja1+
Genetic
Background
involves: C3H/HeJ * C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gja1M1Jrt mutation (1 available); any Gja1 mutation (35 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• 22% smaller than wild-type at 7 weeks of age

skeleton
• craniofacial bones are thin and porous with open foramena at 3 days and beyond, suggestive of an osteogenic defect
• reduction in bone mineral content
• reduction in bone mineral density
• all endochondrial bones are osteopenic
• craniofacial bones originating from both mesoderm and neural crest display delayed ossification
• mechanical strength of bones is reduced; bones have low resistance to load owing to low stiffness, and are weak and ductile

cardiovascular system
• sporadically see sinus pause with atrioventricular dissociation and junctional escape
• seen at 11-13 weeks of age, indicative of mild first degree atrioventricular block
• increase in P wave width
• sporadically exhibit widened QRS complex

craniofacial
• craniofacial bones are thin and porous with open foramena at 3 days and beyond, suggestive of an osteogenic defect

endocrine/exocrine glands
• only a few scattered gap junction plaques are seen in the ovaries compared to wild-type and granulosa cells exhibit weak gap junction coupling

reproductive system
• only a few scattered gap junction plaques are seen in the ovaries compared to wild-type and granulosa cells exhibit weak gap junction coupling

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 Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
10/08/2019
MGI 6.14
The Jackson Laboratory