Phenotypes Associated with This Genotype

Genotype
MGI:3038456

• Allelic Composition: Uchl1^gad/Uchl1^gad
• Genetic Background: involves: CBA/Nga * RFM/Nga

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

mortality/aging

premature death ( J:30954 , J:71819 )

• death by 5 or 6 months (J:30954)

• paralysis interferes with feeding leading to starvation, with complete mortality by ~250 days; mena survival is 187 days (J:71819)

behavior/neurological

tremors ( J:30954 )

• beginning after ataxia and progressively more severe with age

ataxia ( J:30954 , J:71819 )

• beginning at 80 days of age and progressively more severe with age (J:30954)

• 100% of mice develop sensory ataxia by ~80 days (J:71819)

abnormal stationary movement ( J:30954 )

• difficulty moving, beginning after ataxia and progressively more severe with age

• eventually immobile

abnormal gait ( J:71819 )

• both hindlimb digits and footpads make contact when walking, whereas only digits make contact when wild-type mice walk

paralysis ( J:71819 )

• eventually mice become paralyzed

cardiovascular system

cardiovascular system phenotype ( J:30954 )

N • heart appeared normal macro- and micro-scopically

digestive/alimentary system

digestive/alimentary phenotype ( J:30954 )

N • intestine appeared normal macro- and micro-scopically

growth/size/body

decreased body weight ( J:71819 )

• weight is 20% less than wild-type by 80 days of age

weight loss ( J:30954 )

• after appearance of ataxia

hematopoietic system

hematopoietic system phenotype ( J:30954 )

N • spleen appeared normal macro- and micro-scopically

limbs/digits/tail

abnormal hindlimb morphology ( J:30954 )

• atrophy, evident after onset of ataxia, and progressing to anterior part of body

liver/biliary system

liver/biliary system phenotype ( J:30954 )

N • liver appeared normal macro- and micro-scopically

renal/urinary system

renal/urinary system phenotype ( J:30954 )

N • kidney appeared normal macro- and micro-scopically

respiratory system

respiratory system phenotype ( J:30954 )

N • lung appeared normal macro- and micro-scopically

nervous system

abnormal medulla oblongata morphology ( J:30954 )

• axon degeneration in the gracile nucleus

abnormal dorsal root ganglion morphology ( J:71819 )

• 2.2-fold increase in number of small basophilic DRG cell bodies

abnormal spinal cord dorsal column morphology ( J:30954 )

• axon degeneration in the gracile fascicules

axon degeneration ( J:30954 )

• in the gracile nucleus of the medulla oblongata and the gracile fascicules of the spinal cord

axonal dystrophy ( J:71819 )

• a low level of dystrophic axonal dystrophy is observed in nucleus tractus solitarus and area postrema