Phenotypes associated with this allele

• Allele Symbol: Aff1^Rob
• Allele Name: robotic
• Allele ID: MGI:1862020
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Aff1^Rob/Aff1^+	involves: BALB/cAnNCrl * C3H/HeN	MGI:2174716

Genotype
MGI:2174716

ht1

• Allelic Composition: Aff1^Rob/Aff1⁺
• Genetic Background: involves: BALB/cAnNCrl * C3H/HeN

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

mortality/aging

preweaning lethality, incomplete penetrance ( J:82265 )

• the skewed ratio of mutant pups that reach weaning suggests a prenatal and postnatal death rate of around 20%

behavior/neurological

ataxia ( J:82265 )

• by about 3 weeks of age mutants have a jerky, ataxic gait

impaired balance ( J:82265 )

• at 5 weeks of age performance in the rotarod test is significantly impaired

jerky movement ( J:82265 )

abnormal stationary movement ( J:63816 )

• robotic movement

growth/size/body

decreased body size ( J:82265 )

• by about 3 weeks of age mutants are approximately 50% of the size of their littermates

hematopoietic system

decreased thymus weight ( J:82265 )

• thymus weight is significantly lower in mutants compared to littermate controls

thymus hypoplasia ( J:82265 )

• thymus cellularity is significantly lower in mutants compared to littermate controls

abnormal double-negative T cell morphology ( J:82265 )

• a significant increase in DN CD25⁺/CD44^- and decrease in DN CD25^-/CD44⁺ is seen

immune system

decreased thymus weight ( J:82265 )

• thymus weight is significantly lower in mutants compared to littermate controls

thymus hypoplasia ( J:82265 )

• thymus cellularity is significantly lower in mutants compared to littermate controls

abnormal double-negative T cell morphology ( J:82265 )

• a significant increase in DN CD25⁺/CD44^- and decrease in DN CD25^-/CD44⁺ is seen

reproductive system

female infertility ( J:82265 )

♀ • females fail to carry pups to term

reduced male fertility ( J:82265 )

♂ • males mated to wild-type females sire small litters

vision/eye

cataract ( J:82265 )

• complete, bilateral cataracts develop

nervous system

abnormal cerebellum morphology ( J:82265 )

• the size of the cerebellum is reduced at 42 weeks of age

Purkinje cell degeneration ( J:82265 )

• Purkinje cell loss in a region specific pattern in the vermis, with the anterior cerebellum more severely affected is seen from 8 weeks of age on

• by 42 weeks of age only 30% of the Purkinje cells remain primarily in lobe X

• swelling of the dendrites begins at 3 weeks and is followed by swelling of the cell bodies and focal swellings of the cell axons

thin cerebellar molecular layer ( J:82265 )

• from 10 weeks onward, the size of the molecular layer is decreased probably as a result of Purkinje cell loss and increased density of basket and stellate cells

gliosis ( J:82265 )

• induction of Gfap, indicative of gliosis, is seen from 8 weeks onward

endocrine/exocrine glands

decreased thymus weight ( J:82265 )

• thymus weight is significantly lower in mutants compared to littermate controls

thymus hypoplasia ( J:82265 )

• thymus cellularity is significantly lower in mutants compared to littermate controls