Phenotypes associated with this allele

• Allele Symbol: Usp14^nmf375
• Allele Name: neuroscience mutagenesis facility, 375
• Allele ID: MGI:3622127
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Usp14^nmf375/Usp14^nmf375	B6;CByJ-Usp14^nmf375/J	MGI:3622128
hm2	Usp14^nmf375/Usp14^nmf375	B6(C)-Usp14^nmf375	MGI:5526948
hm3	Usp14^nmf375/Usp14^nmf375	C.B6-Usp14^nmf375	MGI:5526947

Genotype
MGI:3622128

hm1

• Allelic Composition: Usp14^nmf375/Usp14^nmf375
• Genetic Background: B6;CByJ-Usp14^nmf375/J

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

growth/size/body

decreased body size ( J:87349 )

• homozygous mutant mice are smaller than unaffected littermates

muscle

muscle degeneration ( J:87349 )

• some mutant mice exhibit apparent wasting of the hindquarters

muscle spasm ( J:87349 )

• intermittent spasms of the hindlimbs that may either extend or contract the limb; some mutant mice also experience intermittent spasms of the forelimbs

behavior/neurological

limb grasping ( J:87349 )

• when lifted by the tail, a mutant mouse keeps its hindlimbs together

paraparesis ( J:87349 )

• homozygous mice exhibit weakness of the hindlimbs, which lag behind during locomotion

nervous system

abnormal brainstem morphology ( J:87349 )

• histologic analysis of the brains and spinal cords of four mutants aged 40, 80, 86 and 113 days revealed axonal dystrophy in the brainstem of the oldest mouse

abnormal spinal cord morphology ( J:87349 )

• histologic analysis of the brains and spinal cords of four mutant mice aged 40, 80, 86 and 113 days revealed dystrophic axons in the spinal cord of the youngest mouse and degeneration of the white matter of the spinal cord of the oldest mouse

axonal dystrophy ( J:87349 )

• histologic analysis of the brains and spinal cords of four mutant mice aged 40, 80, 86 and 113 days revealed dystrophic axons in the spinal cord of the youngest mouse and degeneration of the white matter of the spinal cord of the oldest mouse

• histologic analysis of the brains and spinal cords of four mutants aged 40, 80, 86 and 113 days revealed axonal dystrophy in the brainstem of the oldest mouse

Genotype
MGI:5526948

hm2

• Allelic Composition: Usp14^nmf375/Usp14^nmf375
• Genetic Background: B6(C)-Usp14^nmf375

mortality/aging

perinatal lethality, complete penetrance ( J:203043 )

• Background Sensitivity: mice on a C57BL/6 background die at or before birth unlike mice on a BALB/c background

Genotype
MGI:5526947

hm3

• Allelic Composition: Usp14^nmf375/Usp14^nmf375
• Genetic Background: C.B6-Usp14^nmf375

mortality/aging

premature death ( J:203043 )

• Background Sensitivity: mice on a congenic BALB/c background die by 50 weeks unlike mice on a C57BL/6J background which die at or before birth

nervous system

nervous system phenotype ( J:203043 )

N • mice exhibit normal Purkinje cell axon morphology and paired pulse facilitation

abnormal neuromuscular synapse morphology ( J:203043 )

• large accumulations of neurofilaments at the nerve terminals at 10 to 12 weeks

abnormal nervous system physiology ( J:203043 )

• mice exhibit normal Purkinje cell axon morphology and paired pulse facilitation

behavior/neurological

behavior/neurological phenotype ( J:203043 )

N • unlike Usp14^ax-J homozygotes, mice exhibit normal baseline locomotion

impaired coordination ( J:203043 )

• on a rotarod at 10 to 12 weeks

increased mechanical nociceptive threshold ( J:203043 )

• increased threshold in Von Frey assay for tactile sensitivity at 4 to 6 weeks

growth/size/body

decreased body size ( J:203043 )

• by 4 weeks

• however, mice continue to gain weight over time

decreased body weight ( J:203043 )

• however, mice continue to gain weight over time

muscle

muscle phenotype ( J:203043 )

N • mice exhibit normal cross-sectional muscle fiber area

muscle weakness ( J:203043 )