Phenotypes Associated with This Genotype

Genotype
MGI:4454427

• Allelic Composition: Large1^myd-3J/Large1^myd-3J
• Genetic Background: STOCK Large1^myd-3J/GrsrJ

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

Large1^myd-3J/Large1^myd-3J mice exhibit retinoschisis

vision/eye

abnormal retina neuronal layer morphology ( J:160357 )

• retinoschisis

muscle

muscle phenotype ( J:160357 )

N • two assessed homozygotes, one 33 weeks old and the other 37 weeks old, do not show any abnormality in the heart muscle

skeletal muscle degeneration ( J:160357 )

• the outward phenotype associated with the muscle degeneration is usually not visible until 2 to 3 months of age, although phenotype at wean age can sometimes be found, and presents as an inability to splay the hind legs outward when lifted by the tail, then an increasingly swaying gait which progresses eventually to dragging of the hind legs

myopathy ( J:160357 )

reproductive system

male infertility ( J:160357 )

♂ • no homozygous male has bred

behavior/neurological

abnormal gait ( J:160357 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
muscular dystrophy-dystroglycanopathy type B6		DOID:0110637	OMIM:608840	J:160357