Slc12a1^urehr3
Chemically induced Allele Detail

Summary

• Symbol: Slc12a1^urehr3
• Name: solute carrier family 12, member 1; urea phenotype 3
• MGI ID: MGI:3712283
• Synonyms: HST009, Slc12a1^I299F
• Gene: Slc12a1 Location: Chr2:124994430-125071922 bp, + strand Genetic Position: Chr2, 61.23 cM
• Alliance: Slc12a1^urehr3 page

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

Disease models

Expression

In Structures Affected by this Mutation:

8 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 Slc12a1 Mutation: 55 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: 5 reference(s)