Phenotypes associated with this allele

• Allele Symbol: Asah1^tm1.1Medin
• Allele Name: targeted mutation 1.1, Jeffrey Medin
• Allele ID: MGI:8275162
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Asah1^tm1.1Medin/Asah1^tm1.1Medin	B6.129S6(CBA)-Asah1^tm1.1Medin	MGI:8275242

Genotype
MGI:8275242

hm1

• Allelic Composition: Asah1^tm1.1Medin/Asah1^tm1.1Medin
• Genetic Background: B6.129S6(CBA)-Asah1^tm1.1Medin

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

behavior/neurological

increased susceptibility to pharmacologically induced seizures ( J:360938 )

• lower threshold to expressing myoclonic jerks using the flurothyl rechallenge model

tremors ( J:360938 )

• by age 21 weeks

impaired limb coordination ( J:360938 )

• increased latency to fall in rotarod test from age 19-20 weeksq

abnormal gait ( J:360938 )

• from age 15-18 weeks, progressively worsening

hypoactivity ( J:360938 )

• by age 21 weeks

hindlimb paralysis ( J:360938 )

• after age 21 weeks

increased mechanical nociceptive threshold ( J:360938 )

• reduced paw-withdrawal response and increased force needed to elicit that response in von Frey filament test at age 18-21 weeks

cardiovascular system

abnormal perivascular macrophage morphology ( J:360938 )

• increased MAC2+ histiocyte infiltration

cellular

astrocytosis ( J:360938 )

• in spinal cord white matter from age 8 weeks, progressively worsening through age 21 weeks

growth/size/body

weight loss ( J:360938 )

• progressive weight loss

hematopoietic system

abnormal perivascular macrophage morphology ( J:360938 )

• increased MAC2+ histiocyte infiltration

spleen atrophy ( J:360938 )

abnormal spleen white pulp morphology ( J:360938 )

• increased foamy MAC2+ macrophage infiltration

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:360938 )

N • normal vitamin B12 processing

abnormal sphingolipid level ( J:360938 )

• higher in liver and spleen

• accumulation of dihexosylceramide (DHC) in brain

• accumulation of dihexosylceramide (DHC) and sphingomyelin in spinal cord

• normal monohexosylceramide (MHC) levels in brain and spinal cord

increased ceramide level ( J:360938 )

• in liver and spleen

increased sphingosine level ( J:360938 )

• in liver and spleen

increased chemokine level ( J:360938 )

• increased plasma CCL2 level

immune system

abnormal perivascular macrophage morphology ( J:360938 )

• increased MAC2+ histiocyte infiltration

spleen atrophy ( J:360938 )

abnormal spleen white pulp morphology ( J:360938 )

• increased foamy MAC2+ macrophage infiltration

increased chemokine level ( J:360938 )

• increased plasma CCL2 level

liver/biliary system

liver degeneration ( J:360938 )

mortality/aging

premature death ( J:360938 )

• median lifespan of 145 days

muscle

abnormal urinary bladder detrusor smooth muscle morphology ( J:360938 )

• thicker muscle layer

progressive muscle weakness ( J:360938 )

• reduced muscle strength in wire hang test from age 9-10 weeks, progressively worsening to test failure at age 19-20 weeks

nervous system

nervous system phenotype ( J:360938 )

N • normal cerebellum morphology

N • normal spinal cord grey matter morphology

increased susceptibility to pharmacologically induced seizures ( J:360938 )

• lower threshold to expressing myoclonic jerks using the flurothyl rechallenge model

astrocytosis ( J:360938 )

• in spinal cord white matter from age 8 weeks, progressively worsening through age 21 weeks

abnormal spinal cord white matter morphology ( J:360938 )

• lesions at age 15 weeks, progressively worsening through age 21-23 weeks

• axon loss

• fibrotic scarring in lesions

• in spinal cord white matter from age 8 weeks, progressively worsening through age 21 weeks

spinal cord degeneration ( J:360938 )

• demyelination and vacuolization of spinal cord from age 8 weeks, progressively worsening through age 21-23 weeks

• white matter axon loss

• fibrotic scarring in white matter lesions

demyelination ( J:360938 )

• demyelination of spinal cord from age 8 weeks, progressively worsening through age 21-23 weeks

renal/urinary system

abnormal urinary bladder detrusor smooth muscle morphology ( J:360938 )

• thicker muscle layer

abnormal kidney morphology ( J:360938 )

• asymmetric kidney damage in cases of severe incontinence

abnormal urinary bladder urothelium morphology ( J:360938 )

• increased cellularity

distended urinary bladder ( J:360938 )

• in cases of severe incontinence

urinary incontinence ( J:360938 )

• after age 21 weeks

• severe cases show distended bladder and asymmetric kidney damage

reproductive system

reproductive system phenotype ( J:360938 )

N • fertile

skeleton

kyphosis ( J:360938 )

• by age 21 weeks

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spinal muscular atrophy with progressive myoclonic epilepsy		DOID:0111527	OMIM:159950	J:360938