About   Help   FAQ
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 (59 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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/19/2024
MGI 6.23
The Jackson Laboratory