Phenotypes associated with this allele

• Allele Symbol: Tor1a^tm4.2Wtd
• Allele Name: targeted mutation 4.2, William T Dauer
• Allele ID: MGI:5693835
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tor1a^tm4.2Wtd/Tor1a^tm4.2Wtd	involves: 129S/SvEv * 129S1/Sv * C57BL/6	MGI:5693973
ht2	Tor1a^tm2Wtd/Tor1a^tm4.2Wtd	involves: 129S/SvEv * 129S1/Sv * C57BL/6	MGI:5693975

Genotype
MGI:5693973

hm1

• Allelic Composition: Tor1a^tm4.2Wtd/Tor1a^tm4.2Wtd
• Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6

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

behavior/neurological

abnormal reflex ( J:225567 )

• truncal twisting during tail suspension

• sustained forepaw straining during tail suspension

limb grasping ( J:225567 )

• forelimb clasping during tail suspension

tremors ( J:225567 )

impaired balance ( J:225567 )

• increased number of footslips on balance beam as compared to control

• mice cross balance beam using forepaws and dragging hind paws

impaired coordination ( J:225567 )

• increased number of footslips on balance beam as compared to control

• mice cross balance beam using forepaws and dragging hind paws

decreased grip strength ( J:225567 )

• impaired ability to remain suspended in horizontal grid hang test (decreased latency to fall)

weakness ( J:225567 )

hunched posture ( J:225567 )

• hunched posture on balance beam

cellular

abnormal cell nucleus morphology ( J:225567 )

• neuronal nuclear envelope budding is found in P0 mice

growth/size/body

decreased body weight ( J:225567 )

• reduced body weight beginning at 35 days of age as compared to controls

mortality/aging

premature death ( J:225567 )

• most of loss occurs by 30 days of age

• 73.68% survival rate by 75 days of age

preweaning lethality, incomplete penetrance ( J:225567 )

• some pups fail to nurse and die within 24 hours of birth

nervous system

gliosis ( J:225567 )

• regions of gliosis found in deep cerebellar nuclei, cortex, thalamus, red nucleus and facial motor nucleus

abnormal neuron morphology ( J:225567 )

• ubiquitin accumulation is found in deep cerebellar nuclei, cortex, thalamus, red nucleus and facial motor nucleus

vision/eye

delayed eyelid opening ( J:225567 )

Genotype
MGI:5693975

ht2

• Allelic Composition: Tor1a^tm2Wtd/Tor1a^tm4.2Wtd
• Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6

behavior/neurological

abnormal reflex ( J:225567 )

• truncal twisting during tail suspension

• sustained forepaw straining during tail suspension

limb grasping ( J:225567 )

• forelimb clasping during tail suspension

tremors ( J:225567 )

impaired balance ( J:225567 )

• balance beam crossing using forepaws and dragging hind paws

• increased number of footslips on balance beam as compared to control

impaired coordination ( J:225567 )

• balance beam crossing using forepaws and dragging hind paws

• increased number of footslips on balance beam as compared to control

decreased grip strength ( J:225567 )

• impaired ability to remain suspended in horizontal grid hang test (decreased latency to fall)

weakness ( J:225567 )

hunched posture ( J:225567 )

• hunched posture on balance beam

growth/size/body

decreased body weight ( J:225567 )

• reduced body weight beginning at P7 as compared to controls

mortality/aging

premature death ( J:225567 )

• 47.37% survival rate

• most of loss occurs by 30 days of age

nervous system

abnormal cerebellum deep nucleus morphology ( J:225567 )

• reduced numbers of deep cerebellar nuclei

gliosis ( J:225567 )

• regions of gliosis found in deep cerebellar nuclei, cortex, thalamus, red nucleus and facial motor nucleus

abnormal neuron morphology ( J:225567 )

• ubiquitin accumulation found in deep cerebellar nuclei, cortex, thalamus, red nucleus and facial motor nucleus

neurodegeneration ( J:225567 )

vision/eye

delayed eyelid opening ( J:225567 )