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Protein Coding Gene : Sptbn4 spectrin beta, non-erythrocytic 4
Primary Identifier  MGI:1890574 Organism  mouse, laboratory
Chromosome  7 NCBI Gene Number  80297
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0)

Enables actin binding activity and spectrin binding activity. Acts upstream of or within several processes, including adult walking behavior; neuron development; and regulation of heart contraction. Located in axon; cell body fiber; and intercalated disc. Is active in juxtaparanode region of axon and node of Ranvier. Is expressed in several structures, including cochlea; neural ectoderm; optic vesicle; spinal cord lateral wall; and spleen. Orthologous to human SPTBN4 (spectrin beta, non-erythrocytic 4).
PHENOTYPE: Homozygotes for spontaneous mutations exhibit tremors, progressive ataxia with hind limb paralysis, central deafness, reduced body weight, and shortened lifespan. Males are sterile, but females may breed. [provided by MGI curators]
  • synonyms:
  • RIKEN cDNA 5830426A08 gene,
  • spectrin beta 4,
  • neuroscience mutagenesis facility, 379,
  • MGI:97840,
  • 1700022P15Rik,
  • neuroscience mutagenesis facility, 261,
  • ROSA62,
  • MGI:1923290,
  • MGD-MRK-13741,
  • RIKEN cDNA 1700022P15 gene,
  • 5830426A08Rik,
  • Sptbn4,
  • MGD-MRK-9265,
  • neuroaxonal dystrophy,
  • quivering,
  • qv,
  • MGD-MRK-11840,
  • SpbIV,
  • dyn,
  • nmf379,
  • MGI:3514294,
  • nmf261,
  • MGI:1922798,
  • lnd,
  • spectrin beta, non-erythrocytic 4,
  • lumbosacral neuroaxonal dystrophy,
  • Spnb4,
  • MGI:3589010
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Trail: ProteinCodingGene

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Canonical gene --> CDSs in specific strains.

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Trail: ProteinCodingGene

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