Phenotypes Associated with This Genotype

Genotype
MGI:3620841

• Allelic Composition: Gja1^M1Jrt/Gja1⁺
• Genetic Background: involves: C3H/HeJ * C57BL/6J * FVB/N

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

growth/size/body

decreased body size ( J:101733 )

• 22% smaller than wild-type at 7 weeks of age

skeleton

abnormal craniofacial bone morphology ( J:101733 )

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

decreased bone mineral content ( J:101733 )

• reduction in bone mineral content

decreased bone mineral density ( J:101733 )

• reduction in bone mineral density

• all endochondrial bones are osteopenic

delayed bone ossification ( J:101733 )

• craniofacial bones originating from both mesoderm and neural crest display delayed ossification

decreased bone strength ( J:101733 )

• mechanical strength of bones is reduced; bones have low resistance to load owing to low stiffness, and are weak and ductile

cardiovascular system

decreased heart rate ( J:101733 )

irregular heartbeat ( J:101733 )

abnormal impulse conducting system conduction ( J:101733 )

• sporadically see sinus pause with atrioventricular dissociation and junctional escape

prolonged PR interval ( J:101733 )

• seen at 11-13 weeks of age, indicative of mild first degree atrioventricular block

prolonged P wave ( J:101733 )

• increase in P wave width

prolonged QRS complex duration ( J:101733 )

• sporadically exhibit widened QRS complex

craniofacial

abnormal craniofacial bone morphology ( J:101733 )

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

endocrine/exocrine glands

abnormal ovary morphology ( J:101733 )

♀ • 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

abnormal ovary morphology ( J:101733 )

♀ • 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