Phenotypes Associated with This Genotype

Genotype
MGI:5300199

• Allelic Composition: Cntn1^m1J/Cntn1^m1J
• Genetic Background: B6;C-Cntn1^m1J/GrsrJ

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

growth/size/body

decreased body weight ( J:178817 )

• homozygotes are noticably smaller by 4 to 7 days of age and appear emaciated by 2 weeks of age

• necropsy at 2 and 3 weeks of age reveals a paucity of food in the stomach, pale livers, gas bubbles in the intestines, and fat deposits in the liver characteristic of fat mobilization in starvation

behavior/neurological

abnormal motor coordination/balance ( J:178817 )

• locomotor abnormalities evident by 2 weeks of age includes ataxia

ataxia ( J:178817 )

mortality/aging

lethality at weaning, complete penetrance ( J:178817 )

• all homozygotes die by 30 days of age

preweaning lethality, incomplete penetrance ( J:178817 )

• 80% of homozygotes die by 18 to 20 days of age

nervous system

nervous system phenotype ( J:178817 )

N • no morphological abnormalities detected in the brain, Purkinje cells have normal arborization, and neuromuscular junctions have normal morphology

vision/eye

vision/eye phenotype ( J:178817 )

N • retinal anatomy is normal

muscle

muscle phenotype ( J:178817 )

N • neuromuscular junctions are normal, muscle weight to body weight ratio is normal, and the twitch and tetanic force generated by the muscles is normal when normalized for muscle weight of these smaller mutants

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