Phenotypes associated with this allele

• Allele Symbol: Uchl3^tm1Tilg
• Allele Name: targeted mutation 1, Shirley M Tilghman
• Allele ID: MGI:1930988
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Uchl3^tm1Tilg/Uchl3^tm1Tilg	involves: 129S1/Sv * C57BL/6	MGI:2174795
hm2	Uchl3^tm1Tilg/Uchl3^tm1Tilg	involves: 129S1/Sv * C57BL/6J	MGI:3639946
cx3	Uchl1^gad/Uchl1^gad Uchl3^tm1Tilg/Uchl3^tm1Tilg	involves: 129S1/Sv * C57BL/6J * CBA/Nga * RFM/Nga	MGI:3758072

Genotype
MGI:2174795

hm1

• Allelic Composition: Uchl3^tm1Tilg/Uchl3^tm1Tilg
• Genetic Background: involves: 129S1/Sv * C57BL/6

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

vision/eye

abnormal retina layer morphology ( J:83810 )

• the distal photoreceptor region is dramatically shortened

abnormal retina outer nuclear layer morphology ( J:83810 )

• mice show an indistinguishable retinal phenotype to Lmo7^tm1Tilg with dramatically reduced cell numbers in this layer

muscle

abnormal skeletal muscle fiber morphology ( J:83810 )

• mice show similar defects to Lmo7^tm1Tilg mice with increased nuclei number and inclusions, but with a lower penetrance and later onset; nuclear defects are observed in 5/9 homozygotes at 170 days after birth compared to 6/6 Lmo7-null mice at 80 days of age

growth/size/body

decreased body weight ( J:71819 )

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

nervous system

abnormal dorsal root ganglion morphology ( J:71819 )

• 3.6-fold increase in small basophilic DRG cell bodies

axonal dystrophy ( J:71819 )

immune system

immune system phenotype ( J:61093 )

N • initial investigation of thymi show no significant differences from wild-type

reproductive system

reproductive system phenotype ( J:61093 )

N • initial investigation of testes show no significant differences from wild-type

Genotype
MGI:3639946

hm2

• Allelic Composition: Uchl3^tm1Tilg/Uchl3^tm1Tilg
• Genetic Background: involves: 129S1/Sv * C57BL/6J

vision/eye

abnormal retina vasculature morphology ( J:110169 )

increased retina apoptosis ( J:110169 )

• at 3, 6, and 8 weeks of age, numbers of apoptotic cells are increased at the outer layer in the retina compared to wild-type

abnormal photoreceptor inner segment morphology ( J:110169 )

• mitochondria at the inner segment are swollen; percentage of cristae to total area of mitochondrion in the inner segment is lower than in wild-type mice

abnormal photoreceptor outer segment morphology ( J:110169 )

• a significant decrease in thickness by 6 weeks of age is observed

abnormal retina outer nuclear layer morphology ( J:110169 )

• chromatin condensation in photoreceptor nuclei in sometimes observed in the outer nuclear layer at 3 weeks of age

thin retina outer nuclear layer ( J:110169 )

• layer is significantly decreased in thickness by 6 weeks of age

thin retina outer plexiform layer ( J:110169 )

• layer is significantly decreased in thickness by 6 weeks of age

increased susceptibility to age-related retinal degeneration ( J:110169 )

• the retinal begins to degenerate at 3 weeks of age in the inner segment and ultimately disappears by 12 weeks

cardiovascular system

abnormal retina vasculature morphology ( J:110169 )

nervous system

abnormal photoreceptor inner segment morphology ( J:110169 )

• mitochondria at the inner segment are swollen; percentage of cristae to total area of mitochondrion in the inner segment is lower than in wild-type mice

abnormal photoreceptor outer segment morphology ( J:110169 )

• a significant decrease in thickness by 6 weeks of age is observed

cellular

increased retina apoptosis ( J:110169 )

• at 3, 6, and 8 weeks of age, numbers of apoptotic cells are increased at the outer layer in the retina compared to wild-type

Genotype
MGI:3758072

cx3

• Allelic Composition: Uchl1^gad/Uchl1^gad; Uchl3^tm1Tilg/Uchl3^tm1Tilg
• Genetic Background: involves: 129S1/Sv * C57BL/6J * CBA/Nga * RFM/Nga

mortality/aging

premature death ( J:71819 )

• mortality resulting from starvation occurs, with all mice succumbing by ~200 days, with mean survival of 118 days

growth/size/body

decreased body weight ( J:71819 )

• by 80 days of age, mice weigh 45% less than wild-type and 30% less than single homozgyotes by 80 days of age

nervous system

abnormal dorsal root ganglion morphology ( J:71819 )

• DRG cell bodies from which the gracile axons emanate show increased degeneration, with smaller cell diameter and more basophilic cytoplasm; abnormal cell morphology is 4.1-fold higher than in wild-type

axon degeneration ( J:71819 )

• more severe than Uchl1^gad homozygotes

axonal dystrophy ( J:71819 )

• at ~90 days of age, dystrophic axons or spheroids are observed in sections of gracile nucleus

• increased numbers of spheroids are seen in double mutants compared to Uchl-null mice in nucleus tractus solitarus and area postrema; increase is seen in gracile nucleus of the medulla and in the gracile fascicle of the spinal cord at cervical and thoracic levels

behavior/neurological

dysphagia ( J:71819 )

• occurs with high penetrance compared to single homozygotes; associated with terminal stages and range from several days to several weeks in duration

ataxia ( J:71819 )

• 100% of mice develop sensory ataxia by ~80 days

abnormal gait ( J:71819 )

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

paralysis ( J:71819 )

• at time of death, mice display only moderate posterior paralysis compared to more severely affected age-matched Uchl1^gad mutants

digestive/alimentary system

dysphagia ( J:71819 )

• occurs with high penetrance compared to single homozygotes; associated with terminal stages and range from several days to several weeks in duration