About   Help   FAQ
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
Loading...
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:  36 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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
09/24/2024
MGI 6.24
The Jackson Laboratory