Human Disease and Mouse Model Detail

Human Disease

Term: Muscular Dystrophy, Congenital Merosin-Deficient, 1A; MDC1A
OMIM ID: 607855

Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene

Human Gene

Characteristics of this human disease are associated with mutations in...

Lama2

LAMA2

...both mouse and human orthologous genes.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Lama2^dy-2J/Lama2^dy-2J		B6.WK-Lama2^dy-2J	J:97464
Lama2^dy-6J/Lama2^dy-6J		involves: C57BL/6JEi * DBA/2J	J:56803
Lama2^dy-7J/Lama2^dy-7J		C57BL/6J-Lama2^dy-7J/J	J:134367
Lama2^dy-8J/Lama2^dy-8J		C57BL/6J-Lama2^dy-8J/GrsrJ	J:149729
Lama2^dy/Lama2^dy		129P1/Re	J:13125
Lama2^tm1Eeng/Lama2^tm1Eeng		involves: 129S1/Sv	J:170192
Lama2^tm1Eeng/Lama2^tm1Eeng		involves: 129S1/Sv * Black Swiss * FVB/N	J:49435
Lama2^tm1Eeng/Lama2^tm1Eeng		involves: 129S1/Sv * Black Swiss	J:59089
Lama2^tm1Stk/Lama2^tm1Stk		involves: 129/Sv * 129P2/OlaHsd * BALB/c * ICR	J:43145, J:167230

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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