Strain Name:
C57BL/6J-Dstm2Btlr/Mmmh
Stock Number:
038168--TBD-
Citation ID:
RRID:MMRRC_038168--TBD-
Other Names:
tinsel
Major Collection:

Strain Information

Dstm2Btlr
Name: dystonin; mutation 2, Bruce Beutler
Synonyms: tinsel
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 1
Alteration at locus: Chemically Induced
Dst
Name: dystonin
Synonyms: bullous pemphigoid antigen 1, BPAG1-n, BPAG1, Bpag1, Bpag, ah, bullous pemphigoid antigen 1, athetoid, Macf2, 2310001O04Rik, nmf203, A830042E19Rik, nmf339
Type: Gene
Species: Mouse
Chromosome: 1
Alteration at locus: Chemically Induced
NCBI: 13518
HGNC: HGNC:1090
Homologene: 136716
Genetic Alterations
ENU-induced A to G transition at base pair 34,164,167 (v38) on chromosome 1, or base pair 255,961 in the GenBank genomic region NC_000067 for the Dst gene. The mutation corresponds to residue 2,156 in the muscle-specific Dst isoform (Dst-b1; NM_134448) within exon 17 of 98 total exons residue 2,156 in the neuron-specific Dst isoform (Dst-a1; NM_133833) within exon 17 of 93 total exons, and residue 1,178 in the epithelial-specific Dst isoform (Dst-e; NM_010081) within exon 7 of 24 total exons.The mutation results in a glutamic acid (E) to glycine (G) substitution at position 719 (E719G) in the DST-b1 protein, a glutamic acid (E) to glycine (G) substitution at position 419 (E419G) in the DST-a1 protein, and a glutamic acid (E) to glycine (G) substitution at position 393 (E393G) in the DST-e protein
Phenotype

Homozygous: Mice showed head tilt and steotypic behavior. No tremor, head tossing, or ataxia were observed.

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
MMRRC Genetic QC Summary
The MMRRC Centers have developed a genetic QC pipeline using MiniMUGA array genotyping to provide additional information on strain backgrounds for MMRRC congenic and inbred strains. For more information on when data may be available, or to request genotyping for a strain of interest, please contact . Older strains may not have this information.
  • Cell Biology
  • Models for Human Disease
    • Hereditary sensory and autonomic neuropathy type 6 (HSAN6)
Primary Reference

SoRelle J, Zhang Z, Murray AR, Beutler B. Record for tinsel. 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
Black
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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