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Phenotypes Associated with This Genotype
Genotype
MGI:6198577
Allelic
Composition
Dync1h1tm1.1Sjki/Dync1h1+
Genetic
Background
involves: 129 * 129S1/SvImJ * C57BL/6 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dync1h1tm1.1Sjki mutation (0 available); any Dync1h1 mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice show an increase in atypical tail suspension responses at 9 and 12 months of age, but not at 3 or 6 months, showing clenching of hindlimbs
• in the accelerating rotarod, males exhibit reduced performance at 3, 6, and 9 months of age while females only show reduced performance at 3 months of age
• males exhibit weakness in limb grip strength, with reduced weakness in hind limbs at an early age and progressive front limb weakness with age at 9 and 12 months of age
• females exhibit subtle defects in grip strength at 6 and 9 months of age, but no defect in front limb grip strength

growth/size/body
• females show a modest weight gain at 3 months that disappears with age

nervous system
• neuromuscular junctions (NMJ) exhibit a range of defects in size, branches, and complexity
• NMJs of 1 month old mice have fewer branches, longer branches, and a reduction in the surface area to volume ratio of the entire NJM
• morphology of NMJs at 3 months are indistinguishable from wild-type
• a small subset of NMJs at 6 months of age appear less complex
• a large percent of NMJs at 9 months of age show defects, with a decrease in the percentage of NMJs that are innervated
• NMJs at 12 months of age show severe defects, with many having a wider junction diameter with a reduction in the number of branches present and a reduction in the percentage of NMJs that are innervated correctly

muscle
N
• gastrocnemius muscle shows normal sarcomere organization and sarcomere lengths in males

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Charcot-Marie-Tooth disease axonal type 2O DOID:0110175 OMIM:614228
J:264493


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/23/2021
MGI 6.16
The Jackson Laboratory