Phenotypes Associated with This Genotype

Genotype
MGI:4947712

• Allelic Composition: Lama2^tm1Eeng/Lama2^tm1Eeng
• Genetic Background: involves: 129S1/Sv

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

mortality/aging

premature death ( J:170192 )

perinatal lethality, incomplete penetrance ( J:170192 )

• some newborn death is observed

muscle

myositis ( J:170192 )

• inflammation is seen in muscles, with macrophage infiltration in foci of TN-C expression in mutant muscle and induction of TNFalpha and IL-1beta

dystrophic muscle ( J:170192 )

muscle degeneration ( J:170192 )

• necrotic muscle cell death

muscle weakness ( J:170192 )

• hindlimb weakness is evident by 2 to 3 weeks of age

• inward contraction and slight tremors of hindlimbs are seen when mutants are suspended

• hindlimb fatigue and dragging are seen at later stages

growth/size/body

decreased body size ( J:170192 )

• small size is seen by 7 days of age

behavior/neurological

hindlimb paralysis ( J:170192 )

• hindlimb paralysis and rigid contractures occur in mutants surviving past 8 weeks of age

immune system

myositis ( J:170192 )

• inflammation is seen in muscles, with macrophage infiltration in foci of TN-C expression in mutant muscle and induction of TNFalpha and IL-1beta

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital merosin-deficient muscular dystrophy 1A		DOID:0110636	OMIM:607855	J:170192