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Chemically induced Allele Detail
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
Strain of Origin:  C3HeB/FeJ
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
Mutation detailsENU 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
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
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)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 5.21
The Jackson Laboratory