Phenotypes associated with this allele

• Allele Symbol: Usp14^ax-J
• Allele Name: ataxia Jackson
• Allele ID: MGI:1855959
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Usp14^ax-J/Usp14^ax-J	B6.Cg-Usp14^ax-J	MGI:5526950
hm2	Usp14^ax-J/Usp14^ax-J	B6.Cg-Usp14^ax-J/J	MGI:3611318
hm3	Usp14^ax-J/Usp14^ax-J	C.Cg-Usp14^ax-J	MGI:5526949
hm4	Usp14^ax-J/Usp14^ax-J	involves: STOCK Mafb^kr	MGI:2388019
cx5	Nxf1^Mvb1/Nxf1^Mvb1 Usp14^ax-J/Usp14^ax-J	involves: C57BL/6	MGI:3848536

Genotype
MGI:5526950

hm1

• Allelic Composition: Usp14^ax-J/Usp14^ax-J
• Genetic Background: B6.Cg-Usp14^ax-J

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

mortality/aging

premature death ( J:203043 )

• mice die by 2 months

nervous system

abnormal neuromuscular synapse morphology ( J:203043 )

• large accumulation of neurofilaments in terminals

growth/size/body

decreased body weight ( J:203043 )

Genotype
MGI:3611318

hm2

• Allelic Composition: Usp14^ax-J/Usp14^ax-J
• Genetic Background: B6.Cg-Usp14^ax-J/J

nervous system

increased neuron apoptosis ( J:108034 )

abnormal cerebellar granule cell morphology ( J:108034 )

• TUNEL staining at 38 days of age shows increased apoptosis in cerebellar granule neurons in homozygotes and this is more severe in the anterior lobules than the posterior lobules

impaired synaptic plasticity ( J:79322 )

• changes in short-term plasticity suggestive of a learning impairment; could not be tested due to motor defects of animals

abnormal synaptic transmission ( J:79322 )

reduced long-term potentiation ( J:79322 )

• reduced early phase LTP after high frequency stimulation

decreased post-tetanic potentiation ( J:79322 )

• lower transient PTP immediately after high frequency stimulation

increased synaptic depression ( J:142436 )

• have increased synaptic short-term depression immediately following low frequency stimulation

abnormal miniature endplate potential ( J:79322 )

• significantly lower frequency and higher amplitude of miniature endplate potentials (MEPPs) in diaphragm muscle

• some MEPPs are larger and have significantly slower rise times

• input resistance and size of muscle fibers is not different from controls indicating lack of muscle degeneration

abnormal neurotransmitter secretion ( J:79322 )

• the amplitude of stimulus evoked endplate currents is smaller in diaphragm muscle

• the amplitude of spontaneous miniature endplate currents is larger in diaphragm muscle

• 53% lower quantal content in mutant mice

decreased paired-pulse facilitation ( J:79322 , J:142436 )

• lower levels of PPF at short interpulse intervals indicating defect in presynaptic calcium handling machinery (J:79322)

• there is significant depression of the PPF ratio for the first four inter-stimulus intervals in testing of the hippocampus region (J:142436)

cellular

increased neuron apoptosis ( J:108034 )

Genotype
MGI:5526949

hm3

• Allelic Composition: Usp14^ax-J/Usp14^ax-J
• Genetic Background: C.Cg-Usp14^ax-J

mortality/aging

perinatal lethality, complete penetrance ( J:203043 )

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

Genotype
MGI:2388019

hm4

• Allelic Composition: Usp14^ax-J/Usp14^ax-J
• Genetic Background: involves: STOCK Mafb^kr

mortality/aging

premature death ( J:27868 )

• death occurs at approximately 3 months of age

• death does not appear to be due to neuromuscular defects

growth/size/body

decreased body size ( J:12283 , J:27868 )

• smaller than control siblings (J:27868)

postnatal growth retardation ( J:27868 )

• slowing of growth from birth is noted

• at one week, animals weigh 10% less than controls, 25% less at 3 weeks, and half as much at 5-6 weeks of age

behavior/neurological

tremors ( J:12283 , J:27868 )

• some tremors of the head and body and limbs are observed (J:27868)

ataxia ( J:12283 , J:27868 )

• abnormalities noted at 1 week of age and classifiable at 18 days of age (J:27868)

• at 1 week of age, mice are more active than control siblings and hold legs straight when walking (J:27868)

• animals lift bodies clear of the ground when walking while control siblings crawl with the belly resting on the ground (J:27868)

• occasional tremor or disturbance of the normal diagonal sequence of limb movement is seen (J:27868)

weakness ( J:12283 , J:27868 )

• progressive limb weakness (J:27868)

• developed in parallel with loss of coordination (J:27868)

paralysis ( J:12283 , J:27868 )

• first seen at 3 weeks of age with a steadily increasing paralysis up to 3 months of age (J:27868)

• by 5-6 weeks the ability to sit on haunches is lost and the gait is slower (J:27868)

• in the end state, animals lay on one side and cannot balance in the normal prone position (J:27868)

muscle

muscular atrophy ( J:12283 )

• evident at 3 weeks of age by reduction in muscle fiber diameter and presence of centrally located nuclei

reproductive system

priapism ( J:12283 )

♂ • common in males after a few months of age

♂ • full urinary bladders often seen upon autopsy

female infertility ( J:27868 )

♀

male infertility ( J:27868 )

♂

nervous system

abnormal brain morphology ( J:12283 )

decreased midbrain size ( J:12283 )

• smaller size is more apparent at the tegmentum than the base

abnormal brain commissure morphology ( J:12283 )

decreased corpus callosum size ( J:12283 )

decreased hippocampal commissure size ( J:12283 )

abnormal cingulum morphology ( J:12283 )

• reduced size of cingulum

abnormal limbic system morphology ( J:12283 )

• underdeveloped structures associated with the limbic system, and some nuclei and tracts of the brainstem

abnormal dentate gyrus morphology ( J:6389 )

• reduced in cross-sectional area

• dendritic trees of granule cells of the dentate gyrus are shorter than normal

abnormal hippocampus pyramidal cell morphology ( J:6389 )

• dendritic trees of hippocampal cells show marked reduction in height and lateral spread between 19 and 41 days of age

small hippocampus ( J:6389 )

• reduced in cross-sectional area

abnormal hindbrain morphology ( J:12283 )

abnormal pons morphology ( J:12283 )

• longitudinally shorter than normal

abnormal pontine nuclei morphology ( J:12283 )

• pontine neurons are smaller than in controls

Purkinje cell degeneration ( J:12283 )

• degeneration in Purkinje cell axons and dendrites

small cerebellum ( J:12283 )

• deficiency of white matter in the lobules

abnormal spinal nerve morphology ( J:12283 )

• axis cylinders are smaller than normal and myelin sheaths are correspondingly small

abnormal spinal cord white matter morphology ( J:12283 )

• deficient white matter

skeleton

abnormal lumbar vertebrae morphology ( J:12283 )

• short spinous processes and elongated foramen for exit of spinal nerves

short lumbar vertebrae ( J:12283 )

• shorter than normal

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:5066 )

N • no significant differences from normal are found in the major brain lipid classes, fatty acids, nucleic acids, or neurokeratin amino acid content

Genotype
MGI:3848536

cx5

• Allelic Composition: Nxf1^Mvb1/Nxf1^Mvb1; Usp14^ax-J/Usp14^ax-J
• Genetic Background: involves: C57BL/6

behavior/neurological

tremors ( J:149430 )

• reduced amplitude of tremors relative to those of Usp14^ax-J singlle homozygotes