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Phenotypes Associated with This Genotype
Genotype
MGI:4947712
Allelic
Composition
Lama2tm1Eeng/Lama2tm1Eeng
Genetic
Background
involves: 129S1/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lama2tm1Eeng mutation (1 available); any Lama2 mutation (88 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• some newborn death is observed

muscle
• inflammation is seen in muscles, with macrophage infiltration in foci of TN-C expression in mutant muscle and induction of TNFalpha and IL-1beta
• necrotic muscle cell death
• 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
• small size is seen by 7 days of age

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

immune system
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/08/2017
MGI 6.10
The Jackson Laboratory