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Gene Information

Name: dystonin; mutation 3, Bruce Beutler
Synonyms: phelps
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 1
Alteration at locus: Chemically Induced
Name: dystonin
Synonyms: Bpag1, Bpag, 2310001O04Rik, nmf339, BPAG1, BPAG1-n, bullous pemphigoid antigen 1, Macf2, nmf203, bullous pemphigoid antigen 1, athetoid, A830042E19Rik, ah
Type: Gene
Species: Mus musculus (mouse)
Chromosome: 1
Alteration at locus: Chemically Induced
NCBI: 13518
Homologene: 136716
Genetic Alterations
ENU-induced T to A transversion at base pair 34,223,795 (v38) on chromosome 1, or base pair 315,589 in the GenBank genomic region NC_000067 for the Dst gene, affecting the acceptor splice site of intron 54 in the longest isoform (NM_134448). The effect of the mutation at the cDNA and protein levels have not examined, but the mutation is predicted to result in skipping of the 200-base pair exon 55 (out of 98 total exons) causing a frame-shift, coding of 13 aberrant amino acids followed by a premature stop codon after amino acid 4,546.

Homozygous: Mice showed showed an ataxic gait and an inability to walk.

Heterozygous: No signficant abnormal phenotype detected.

Mammalian Phenotype Terms
Allelic Composition: (Genetic Background: )

Strain Development
Original mutant was a C57BL/6J G3 ENU-induced mutant; all subsequent crosses to maintain strain were on C57BL/6J background only.
Suggested Control Mice
Wild-type littermates or C57BL/6J mice
  • Cell Biology
  • Models for Human Disease
    • Hereditary sensory and autonomic neuropathy type 6 (HSAN6)
Primary Reference

Reyna C, Russell J, Murray AR, Beutler B. Record for phelps. MUTAGENETIX, B. Beutler and colleagues, Center for the Genetics of Host Defense, UT Southwestern, Dallas, TX.

Colony and Husbandry Information

For more information about this colony's health status contact
Coat Color
Viability and Fertility: Female Male Comments
Homozygotes are viable: Yes Yes
Homozygotes are fertile: Yes Yes
Heterozygotes are fertile: Yes Yes
Age Reproductive Decline: Unknown Unknown

Order Request Information

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