Phenotypes Associated with This Genotype

Genotype
MGI:3789197

• Allelic Composition: Lama2^tm1Stk/Lama2^tm1Stk
• Genetic Background: involves: 129/Sv * 129P2/OlaHsd * BALB/c * ICR

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

mortality/aging

premature death ( J:43145 )

• mice die of undetermined causes by 5 weeks of age

muscle

abnormal skeletal muscle morphology ( J:43145 )

• by P21 and P28, proliferation of endomysial connective tissue is observed

abnormal skeletal muscle fiber morphology ( J:43145 )

• the number of apoptotic nuclei in muscle fibers is increased compared to in wild-type mice

increased variability of skeletal muscle fiber size ( J:43145 )

• by P21 and P28, muscle fibers of different calibers are apparent

dystrophic muscle ( J:43145 )

• by P24 mice exhibit dystrophic symptoms including a waddling gait and twitching

muscle spasm ( J:43145 )

• by P24 mice exhibit twitching

myopathy ( J:43145 )

• by P9 mice exhibit scattered degeneration of muscle fibers and at P11 numerous degenerating fibers with extensive infiltrate are observed

• degeneration is accompanied by regeneration at P13

behavior/neurological

abnormal gait ( J:43145 )

• by P24 mice exhibit a waddling gait

growth/size/body

decreased body size ( J:43145 )

• beginning at P14 and continuing for the rest of their lives

postnatal growth retardation ( J:43145 )

• apparent after postnatal day 14

cellular

abnormal basal lamina morphology ( J:43145 )

• the basal lamina is nearly completely absent around muscle fibers and Schwann cells of peripheral nerves

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital merosin-deficient muscular dystrophy 1A		DOID:0110636	OMIM:607855	J:43145 , J:167230