Phenotypes Associated with This Genotype

Genotype
MGI:6198577

• Allelic Composition: Dync1h1^tm1.1Sjki/Dync1h1⁺
• Genetic Background: involves: 129 * 129S1/SvImJ * C57BL/6 * C57BL/6J

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

behavior/neurological

limb grasping ( J:264493 )

• 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

impaired coordination ( J:264493 )

• 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

decreased grip strength ( J:264493 )

• 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

increased susceptibility to weight gain ( J:264493 )

♀ • females show a modest weight gain at 3 months that disappears with age

nervous system

abnormal neuromuscular synapse morphology ( J:264493 )

• 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

muscle phenotype ( J:264493 )

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