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Slc13a5m2Btlr
Chemically induced Allele Detail
Summary
Symbol: Slc13a5m2Btlr
Name: solute carrier family 13 (sodium-dependent citrate transporter), member 5; mutation 2, Bruce Beutler
MGI ID: MGI:6199951
Synonyms: punk2
Gene: Slc13a5  Location: Chr11:72132815-72158048 bp, - strand  Genetic Position: Chr11, 43.95 cM
Alliance: Slc13a5m2Btlr page
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
Allele Type:    Chemically induced (ENU) (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsENU-induced C to T transition at base pair 72,253,391 (v38) on chromosome 11, or base pair 13,666 in the GenBank genomic region NC_000077. The mutation corresponds to residue 899 in the mRNA sequence NM_001004148 within exon 7 of 12 total exons. The mutation results in a threonine to isoleucine substitution at position 287 (T287I) in the NaCT protein. (J:265142)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Slc13a5 Mutation:  37 strains or lines available
References
Original:  J:265142 Zhang Z, et al., Mutagenetix entry for punk2. MGI Direct Data Submission. 2018;
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory