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Human Disease and Mouse Model Detail
Human Disease Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1; DSMA1
OMIM ID: 604320
Human Phenotype Ontology associations
Synonyms Hmn6; HMN VI; Neuronopathy, Distal Hereditary Motor, Type VI; DHMN6; Neuronopathy, Severe Infantile Axonal, with Respiratory Failure; Severe Infantile Axonal Neuropathy with Respiratory Failure; SIANRF; Spinal Muscular Atrophy; Spinal Muscular Atrophy with Respiratory Distress 1; SMARD1; Spinal Muscular Atrophy, Diaphragmatic
View all models View ALL (1) mouse models for this human disease.
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Disease is associated/modeled with this Gene or a homolog. More...
      Human Homologs Mouse Homologs Mouse Models Homology Source
     IGHMBP2* Ighmbp2* View 1 model HomoloGene and HGNC
References Disease References using Mouse Models (2)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.07
The Jackson Laboratory