Phenotypes Associated with This Genotype

Genotype
MGI:2388019

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

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

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