Phenotypes associated with this allele

• Allele Symbol: Spast^tm1.1Jme
• Allele Name: targeted mutation 1.1, Judith Melki
• Allele ID: MGI:3698038
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Spast^tm1.1Jme/Spast^tm1.1Jme	involves: C57BL/6J	MGI:3699155
ht2	Spast^tm1.1Jme/Spast^+	involves: C57BL/6J	MGI:3699156

Genotype
MGI:3699155

hm1

• Allelic Composition: Spast^tm1.1Jme/Spast^tm1.1Jme
• Genetic Background: involves: C57BL/6J

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

nervous system

abnormal axon morphology ( J:117740 )

• progressive axonal swelling is seen in the ascending and descending tracts of the white matter of the spinal cord beginning around 4 months of age

• swellings are restricted to the central nervous system

• focal swellings contain an accumulation of organelles

• in cultured cortical neurons axonal swellings are localized proximal to the region of transition between stable and dynamic microtubules

behavior/neurological

abnormal gait ( J:117740 )

• at 22 months of age, but not at 4 or 12 months, the alteration coefficient is increased

• from 15 to 24 months of age mice display a larger decrease (35%) in critical speed compared to controls (17%)

short stride length ( J:117740 )

• reduced step length at 22 months of age but, not at 4 or 12 months

reproductive system

infertility ( J:117740 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hereditary spastic paraplegia 4		DOID:0110792	OMIM:182601	J:117740

Genotype
MGI:3699156

ht2

• Allelic Composition: Spast^tm1.1Jme/Spast⁺
• Genetic Background: involves: C57BL/6J

nervous system

abnormal axon morphology ( J:117740 )

• axonal swellings are seen in the white matter of the spinal cord, although these are not as numerous as in homozygous mice