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Phenotypes Associated with This Genotype
Genotype
MGI:3783638
Allelic
Composition
Lama2dy/Lama2dy
Genetic
Background
129P1/Re
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lama2dy mutation (2 available); any Lama2 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most homozygotes die between 1 and 6 months of age (J:13125)
• most homozygotes die between 1 and 6 months of age (J:13125)

muscle
• unusual proliferation of sarcolemmal nuclei (J:13125)
• unusual proliferation of sarcolemmal nuclei (J:13125)
• in contrast to wild-type, space between fibers is increased and an increase in interstitial tissue is observed (J:13125)
• in some cases, fat cells are found between fibers (J:13125)
• unusual proliferation of nuclei both within and between the fibers (J:13125)
• affected fibers appear rounded rather than polygonal in transverse section (J:13125)
• in contrast to wild-type, space between fibers is increased and an increase in interstitial tissue is observed (J:13125)
• in some cases, fat cells are found between fibers (J:13125)
• unusual proliferation of nuclei both within and between the fibers (J:13125)
• affected fibers appear rounded rather than polygonal in transverse section (J:13125)
• individual fibers exhibit size variations (J:13125)
• individual fibers exhibit size variations (J:13125)
• some fibers, although otherwise normal, contain long chains of centrally, rather than peripherally, located nuclei (J:13125)
• some fibers, although otherwise normal, contain long chains of centrally, rather than peripherally, located nuclei (J:13125)
• muscular atrophy proceeds from hind quarters to axial and forelimb musculature (J:13125)
• muscular atrophy proceeds from hind quarters to axial and forelimb musculature (J:13125)
• mild paralysis is first observed at 3.5 week and progresses to hindlimb dragging by 8 weeks (J:13125)
• eventually there is a complete loss of locomotor function and premature death (J:13125)
• mild paralysis is first observed at 3.5 week and progresses to hindlimb dragging by 8 weeks (J:13125)
• eventually there is a complete loss of locomotor function and premature death (J:13125)

skeleton
• observed at 8 weeks (J:13125)
• observed at 8 weeks (J:13125)

behavior/neurological
• ataxia with occasional unilateral paresis is first observed at 3.5 weeks of age (J:13125)
• ataxia with occasional unilateral paresis is first observed at 3.5 weeks of age (J:13125)
• unilateral paresis begins at 3.5 weeks progressing to bilateral paresis (J:13125)
• paresis is accompanied by spasmodic flexion and flaccid extension in hindlimbs (J:13125)
• mild paralysis is first observed at 3.5 weeks and progresses to hindlimb dragging by 8 weeks (J:13125)
• unilateral paresis begins at 3.5 weeks progressing to bilateral paresis (J:13125)
• paresis is accompanied by spasmodic flexion and flaccid extension in hindlimbs (J:13125)
• mild paralysis is first observed at 3.5 weeks and progresses to hindlimb dragging by 8 weeks (J:13125)
• failure to mate putatively due to physical disability (J:13125)
• gonad morphology is normal (J:13125)
• failure to mate putatively due to physical disability (J:13125)
• gonad morphology is normal (J:13125)

growth/size/body
• by two weeks of age, body weight is less than wildtype (J:13125)
• weight difference continues through out lifespan (J:13125)
• by two weeks of age, body weight is less than wildtype (J:13125)
• weight difference continues through out lifespan (J:13125)
• cachexia as well as thinning and ruffling of fur is observed by 8 weeks (J:13125)
• cachexia as well as thinning and ruffling of fur is observed by 8 weeks (J:13125)

Mouse Models of Human Disease
OMIM ID Ref(s)
Muscular Dystrophy, Congenital Merosin-Deficient, 1A; MDC1A 607855 J:13125


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory