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Allele : Slc12a3<tm1.1Slin> solute carrier family 12, member 3; targeted mutation 1.1, Shih-Hua Lin

Primary Identifier  MGI:7511768 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Slc12a3
Transmission  Germline Strain of Origin  (129X1/SvJ x 129S1/Sv)F1-Kitl<+>
Is Recombinase  false Is Wild Type  false
molecularNote  A TCT to TAG change resulting in a threonine to methionine substitution at amino acid 58 (p.T58M) was introduced into exon 1. A loxP flanked neomycin selection cassette that was inserted downstream of exon 1 was removed via cre-expression in ES cells. This mutation corresponds to the p.T60M variant that is common in patients with Gitelman syndrome.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Ncc<T58M>,
  • Ncc<T58M>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

3 Publication categories

Trail: Allele