|
|
| Nomenclature |
|
Symbol:
|
Slc12a1urehr3
|
|
Name:
|
solute carrier family 12, member 1;
urea phenotype 3
|
|
MGI ID: |
MGI:3712283 |
|
Synonyms: |
HST009, Slc12a1I299F |
|
Gene:
|
Slc12a1
Location:
Chr2:125152505-125230002 bp, + strand
Genetic Position: Chr2,
61.23 cM
|
|
Mutation
origin |
|
Strain of Origin:
|
C3HeB/FeJ
|
|
Mutation
description |
|
Allele
Type: | |
Chemically induced (ENU) |
|
Mutation: | |
Single point mutation |
| |
|
Mutation details: ENU mutagenesis induced an A to T transversion in exon 7 at nucleotide 1127 (NCBI GenBank no. NM_183354) that results in the amino acid substitution of phenylalamine for isoleucine at position 299 (I299F). This mutation is located at the first position of the fourth transmembrane-spanning domain. (J:159994)
|
|
Inheritance: | |
Recessive |
|
Phenotypes
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| 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 Slc12a1 Mutation:
|
3 strains or lines available |
|
| References |
|
Original: |
J:121470
Aigner B et al.,
"Screening for increased plasma urea levels in a large-scale ENU mouse mutagenesis project reveals kidney disease models."
Am J Physiol Renal Physiol 2007 May;292(5):F1560-7
|
|
All: |
2 reference(s)
|
|
Analysis Tools
