Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Wnk4em1Cjc
Name:	WNK lysine deficient protein kinase 4; endonuclease-mediated mutation 1, Chih-Jen Cheng
MGI ID:	MGI:6414871
Synonyms:	L319F/L321F WNK4 KI
Gene:	Wnk4  Location: Chr11:101151393-101168235 bp, + strand  Genetic Position: Chr11, 64.51 cM
Alliance:	Wnk4em1Cjc page

Strain of Origin:

Not Specified

Allele Type:    Endonuclease-mediated (Not Applicable) Mutation:    Nucleotide substitutions   Mutation details: CRISPR-Cas9 technology generated a CTC to TTC change resulting in a leucine to phenylalanine substitution at amino acid 319 and a CTG to TTC change resulting in a leucine to phenylalanine substitution at amino acid 321. The L319F/L321F mutations result in a chloride-insensitive WNK4. (J:274218)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

3 anatomical structure(s)

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 Wnk4 Mutation:	56 strains or lines available

Original:	J:274218 Chen JC, et al., WNK4 kinase is a physiological intracellular chloride sensor. Proc Natl Acad Sci U S A. 2019 Feb 14;
All:	1 reference(s)