Symbol
Name
ID

Asah1
N-acylsphingosine amidohydrolase 1
MGI:1277124

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes

Facial palsy

Tongue fasciculations

Dysphagia

Difficulty walking

Frequent falls

Degeneration of anterior horn cells

Abnormal lower motor neuron morphology

Clumsiness

Myoclonus

Eyelid myoclonus

Limb myoclonus

Tremor

Irritability

Atypical behavior

Mental deterioration

Dementia

Intellectual disability

Areflexia

Inability to walk

Waddling gait

Motor delay

Seizure

Bilateral tonic-clonic seizure with generalized onset

Typical absence seizure

Generalized-onset seizure

Generalized myoclonic seizure

Atonic seizure

Myoclonic status epilepticus

Disease(s) Associated with ASAH1

Farber lipogranulomatosis

spinal muscular atrophy with progressive myoclonic epilepsy

Mouse Phenotypes		abnormal neuron differentiation	hydrocephaly	dilated brain ventricle	astrocytosis
Availability	Mouse Genotype	abnormal neuron differentiation	hydrocephaly	dilated brain ventricle	astrocytosis
	Asah1^tm1.1Jhkh/Asah1^tm1.1Jhkh
	Asah1^tm1.2Geno/Asah1^tm1.2Geno
	Asah1^tm1Medin/Asah1^tm1Medin

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 05/14/2024 MGI 6.23