Phenotypes associated with this allele

• Allele Symbol: Pcdha9^em2Zhxu
• Allele Name: endonuclease-mediated mutation 2, Zhiheng Xu
• Allele ID: MGI:8162200
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pcdha9^em2Zhxu/Pcdha9^em2Zhxu	C57BL/6-Pcdha9^em2Zhxu	MGI:8162227

Genotype
MGI:8162227

hm1

• Allelic Composition: Pcdha9^em2Zhxu/Pcdha9^em2Zhxu
• Genetic Background: C57BL/6-Pcdha9^em2Zhxu

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

mortality/aging

premature death ( J:360856 )

• a few mice start to die around 5 months of age with lethality progressing with age

• some severely paralyzed mice die within 2 weeks of the onset of paralysis

growth/size/body

weight loss ( J:360856 )

• body weight starts to decline after reaching a peak around 7 months of age and the decline becomes significant at 12 months

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:360856 )

• mice exhibit progressive motor dysfunction

• mice show frequent abnormal claw movement and hindlimb overextension when hung by their tail

impaired coordination ( J:360856 )

• mice show deficits on the rotarod at 10 months of age

impaired limb coordination ( J:360856 )

• mice show defects in limb coordination during the swimming test at 12 months of age

decreased grip strength ( J:360856 )

• both forearm and four-limb grip strength becomes weaker at 12 months of age, but is not significant at 10 months or younger

abnormal gait ( J:360856 )

• mice have severely abnormal gaits at 12 months of age

short stride length ( J:360856 )

• stride length of the stance of the hind limbs is slightly shorter as early as 4 months, becomes obviously shorter at 8 months and gets more severe with age

hemiplegia ( J:360856 )

• most mice are paralyzed at 14 months; paralysis usually starts unilaterally, affecting limbs on one side at a time

muscle

muscular atrophy ( J:360856 )

• severe muscle wasting, with size and weight of the gastrocnemius muscle reduced at 13 months

• atrophied muscle cells with centrally localized nuclei are more obvious at 14 months than at 12 months

• atrophied muscle fibers indicate that muscle atrophy is neurogenic

nervous system

abnormal synaptic bouton morphology ( J:360856 )

• skeletal neuromuscular junctions in the semitendinosus muscles at 13 months of age show more presynaptic sites that are faint/weaker or even denervated

abnormal neuromuscular synapse morphology ( J:360856 )

• individual skeletal neuromuscular junction area is reduced in the semitendinosus muscles at 13 months of age

skeleton

kyphosis ( J:360856 )

• most mice exhibit kyphosis at 14 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
sporadic amyotrophic lateral sclerosis		DOID:0080917		J:360856