Phenotypes associated with this allele

• Allele Symbol: Ubap1^em1Yta
• Allele Name: endonuclease-mediated mutation 1, Yoshihisa Takiyama
• Allele ID: MGI:7414300
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ubap1^em1Yta/Ubap1^em1Yta	involves: C57BL/6 * C57BL/6N * DBA/2	MGI:7414330
ht2	Ubap1^em1Yta/Ubap1^+	involves: C57BL/6 * C57BL/6N * DBA/2	MGI:7414333

Genotype
MGI:7414330

hm1

• Allelic Composition: Ubap1^em1Yta/Ubap1^em1Yta
• Genetic Background: involves: C57BL/6 * C57BL/6N * DBA/2

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

mortality/aging

prenatal lethality, complete penetrance ( J:332139 )

• no homozygotes are born, indicating prenatal lethality

Genotype
MGI:7414333

ht2

• Allelic Composition: Ubap1^em1Yta/Ubap1⁺
• Genetic Background: involves: C57BL/6 * C57BL/6N * DBA/2

behavior/neurological

abnormal gait ( J:332139 )

• mice develop progressive spastic gait, with normal gait at 2 months of age but with an increase in the numbers of slips and falls at 3 months of age and show gait differences at 6 months of age

• - mice exhibit difficulty crossing a beam at 6 months of age

• mice show a decrease in foot-base-angle at 3 months of age; the foot-base-angle is decreased to about 65 degrees at 3 months of age and progressively decreases with growth to about 50 degrees at 6 months of age

hindlimb paresis ( J:332139 )

• mice show a decrease in the ability to grasp sticks with the hind limbs, indicating hind limb muscle weakness

spasticity ( J:332139 )

• mice develop progressive spastic gait

nervous system

abnormal neuron morphology ( J:332139 )

• mice exhibit smaller endosomes and an increase in vesicle number in spinal cord neurons and alternations in distribution of Rab proteins suggesting abnormal endosome formation and fusion

• lumbar spinal cord neurons show an accumulation of ubiquitinated proteins and autophagosomes which co-localize

neuron degeneration ( J:332139 )

• the number of neurons in the spinal cord is reduced in 7-month-old mice

abnormal spinal cord ventral horn morphology ( J:332139 )

• 7-month-old mice exhibit hypertrophy of the anterior horn cells

axon degeneration ( J:332139 )

• myelinated fibers in the spinal cord are distributed unimodally, with small 7 um fibers being most abundant compared to bimodally distributed fibers with 7 um and 10 um fibers being most abundant in wild-type mice, indicating selective loss of thick myelinated fibers close to the spinal cord surface and axonal degeneration

homeostasis/metabolism

impaired autophagy ( J:332139 )

• lumbar spinal cord neurons show an accumulation of autophagosomes which co-localize with the aggregated ubiquitinated proteins, indicating autophagy dysfunction

cellular

impaired autophagy ( J:332139 )

• lumbar spinal cord neurons show an accumulation of autophagosomes which co-localize with the aggregated ubiquitinated proteins, indicating autophagy dysfunction

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hereditary spastic paraplegia 80		DOID:0112341	OMIM:618418	J:332139