Phenotypes associated with this allele

• Allele Symbol: Dync1h1^Loa
• Allele Name: legs at odd angles
• Allele ID: MGI:2447991
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dync1h1^Loa/Dync1h1^Loa	C3H/HeH-Dync1h1^Loa	MGI:3722060
ht2	Dync1h1^Loa/Dync1h1^+	C3H/HeH-Dync1h1^Loa	MGI:3722061
ht3	Dync1h1^Loa/Dync1h1^+	involves: C3H/HeH * C57BL/6	MGI:3722065

Genotype
MGI:3722060

hm1

• Allelic Composition: Dync1h1^Loa/Dync1h1^Loa
• Genetic Background: C3H/HeH-Dync1h1^Loa

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

mortality/aging

neonatal lethality, complete penetrance ( J:83128 )

• mice die within 24 hours of birth

nervous system

abnormal motor neuron innervation pattern ( J:83128 )

• at E13.5, nerves extend less far into the limb and exhibit a 57% decrease in branching complexity

• at E13.5 and E14.5, some facial motor neurons fail to migrate properly and assemble into slightly smaller than normal nuclei more anteriorly leading to the appearance of facial motor nuclei as dumbbell-shaped rather than round as in wild-type mice

• at E14.5, while elongation and branching continues and reaches its target branching complexity remains less than in wild-type mice and nerve elongation defects become more prominent

neuronal intranuclear inclusions ( J:83128 )

• at E18.5, surviving neurons have inclusion bodies

decreased spinal cord ventral horn cell number ( J:83128 )

• at E18.5, mice have lost 50% of anterior horn cells

• apoptosis levels in the anterior horn cells is increased

abnormal axonal transport ( J:83128 )

• in cultures derived from E13 pups, the frequency of high-speed carriers is reduced and the stationary pauses are increased

behavior/neurological

aphagia ( J:83128 )

• at birth mice cannot feed

absent suckling reflex ( J:83128 )

• at birth mice cannot suckle

paralysis ( J:83128 )

• at birth mice cannot move

Genotype
MGI:3722061

ht2

• Allelic Composition: Dync1h1^Loa/Dync1h1⁺
• Genetic Background: C3H/HeH-Dync1h1^Loa

nervous system

abnormal motor neuron innervation pattern ( J:83128 )

• at E13.5, nerves extend less far into the limb and exhibit a 30% decrease in branching complexity

decreased motor neuron number ( J:83128 )

• alpha motor neurons in the spinal cord anterior horn are decreased in number at 16 and 19 months

motor neuron degeneration ( J:83128 )

behavior/neurological

impaired coordination ( J:83128 )

• authors state that mice display a similar phenotype as Dync1h1^Cra1 heterozygotes

abnormal grip strength ( J:83128 )

• authors state that mice display a similar phenotype as Dync1h1^Cra1 heterozygotes

muscle

muscle spasm ( J:83128 )

• mice exhibit cramping when hung by their tails in which the whole body would start to tremble, then the forelimbs cramped, the neck stretched, the mouth opened and the tongue stuck out

• Background Sensitivity: cramping is more severe than on a mixed C57BL/6 background

Genotype
MGI:3722065

ht3

• Allelic Composition: Dync1h1^Loa/Dync1h1⁺
• Genetic Background: involves: C3H/HeH * C57BL/6

muscle

muscle spasm ( J:83128 )

• Background Sensitivity: authors state that the phenotype observed is changed and milder than in Dync1h1^Loa homozygotes