Strain Detail Sheet
Strain Name:
C57BL/6J-Slc45a2uw-8Btlr/Mmmh
Stock Number:
038238--TBD-
Citation ID:
RRID:MMRRC_038238--TBD-
Other Names:
cheng
Major Collection:
Slc45a2uw-8Btlr
Name: solute carrier family 45, member 2; underwhite 8 Bruce Beutler
Synonyms: cheng
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 15
Alteration at locus: Chemically Induced
MGI: MGI:5515378
Slc45a2
Name: solute carrier family 45, member 2
Synonyms: bls, Dbr, Aim1, Aim-1, dominant brown, blanc-sale, Matp, Oca4
Type: Gene
Species: Mus musculus (mouse)
Chromosome: 15
Alteration at locus: Chemically Induced
MGI: MGI:2153040
NCBI: 22293
Ensembl: ENSMUSG00000022243
VEGA: OTTMUSG00000026270
HGNC: HGNC:16472
Homologene: 9412
CCDS: CCDS27382.1
UCSC: Chr15:11000807-11029319
Genetic Alterations
ENU-induced T to C transition at base pair 11025868 bp (v38) on chromosome 15 in the GenBank genomic region NC_000081 for the Slc45a2 gene. The mutation corresponds to residue 1399 in the mRNA sequence (NM_053077.3) in exon 6 of 7 total exons. The mutation results in a substitution of serine (S) to a proline (P) at residue 435 in the SLC45A2 protein.
Phenotype
Homozygous: Mice exhibit a tan/beige coat color and black eyes.
Heterozygous: No abnormal phenotype detected.
Mammalian Phenotype Terms
Allelic Composition: (Genetic Background: )- integument
- diluted coat color [MP:0000371]
- pigmentation
- diluted coat color [MP:0000371]
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 of Human Disease
- Oculocutaneous albinism type 4 (OCA4, OMIM #606574)
Primary Reference
Dismang A, Purrington T, Murray AR, Beutler B. Record for cheng. MUTAGENETIX, B. Beutler and colleagues, Center for the Genetics of Host Defense, UT Southwestern, Dallas, TX.
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 |
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