Phenotypes Associated with This Genotype

Genotype
MGI:5523906

• Allelic Composition: Cntn1^usl/Cntn1^usl
• Genetic Background: MRL/MpJ-Fas^lpr Cntn1^usl/GrsrJ

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:203032 )

• lower than expected Mendelian ratio of homozygotes from heterozygous intercross indicates embryonic or perinatal lethality

preweaning lethality, complete penetrance ( J:203032 )

• all homozygotes die by 3 weeks of age

growth/size/body

decreased body size ( J:203032 )

• runted body size and lack of vitality

behavior/neurological

abnormal motor coordination/balance ( J:203032 )

• homozygotes splay their hind legs, stagger from side-to-side, and a few may lean their head to the side or circle slowly

ataxia ( J:203032 )

abnormal limb posture ( J:203032 )

• hind limbs can be splayed

circling ( J:203032 )

nervous system

abnormal cerebellar granule cell morphology ( J:203032 )

• a few apoptotic granule cells were found in the cerebellum of one of two homozygous females assessed at 2 weeks of age

gliosis ( J:203032 )

• marked gliosis of the white matter of the spinal cord was found in a homozygous female at 2 weeks of age

digestive/alimentary system

stomach non-glandular epithelium hyperkeratosis ( J:203032 )

• hyperkeratosis of the squamous epithelium of the stomach was found in two homozygous females assessed at 2 weeks of age

vision/eye

vision/eye phenotype ( J:203032 )

N • eye examinations of one female at 13 days of age and one male and one female at 16 days of age revealed no abnormalities

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Compton-North congenital myopathy		DOID:0080101	OMIM:612540	J:222308