Phenotypes associated with this allele

• Allele Symbol: Ctsf^tm1Hap
• Allele Name: targeted mutation 1, Harold A Chapman
• Allele ID: MGI:3621931
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ctsf^tm1Hap/Ctsf^tm1Hap	involves: 129/Sv * C57BL/6	MGI:3622111

Genotype
MGI:3622111

hm1

• Allelic Composition: Ctsf^tm1Hap/Ctsf^tm1Hap
• Genetic Background: involves: 129/Sv * C57BL/6

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

mortality/aging

premature death ( J:106923 )

• after onset of neurological disease symptoms, mice exhibit progressive worsening and die within 4-6 months

nervous system

decreased brain weight ( J:106923 )

• in mutants older than 7 months, there is a significant decrease in brain mass compared to controls

gliosis ( J:106923 )

• brains and spinal cords of null mice show substantial gliosis

abnormal motor neuron morphology ( J:106923 )

• spinal cord motorneurons display an accumulation of membrane-bound lamellar inclusions (lipofuscin)

growth/size/body

weight loss ( J:106923 )

• between 9 and 13 months of age, mutants lose 0.8g per month, while wild-type gain 0.4g per month; a significant difference in weight between mutants and wild-type is detected at 12 months

cachexia ( J:106923 )

• mice show a general wasting with onset between 12-16 months

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:106923 )

• mutants are observed to have difficulty walking with onset between 12-16 months

limb grasping ( J:106923 )

• mutants display a prominent tonic hindlimb extension rather than the expected clasping of hindlimbs toward the midline upon being lifted by the tail whereas wild-type mice exert the grasping reflex vigorously

tremors ( J:106923 )

• symptomatic mice exhibit tremors

impaired balance ( J:106923 )

• symptomatic mice exhibit poor balance

abnormal locomotor behavior ( J:106923 )

• symptomatic mice show tonic hindlimb extension and spastic movement

short stride length ( J:106923 )

• mice have reduced stride length at 12 months

paraparesis ( J:106923 )

• mice show hindlimb weakness with onset between 12-16 months