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

Symbol: Kcnj1tm1Ges Name: potassium inwardly-rectifying channel, subfamily J, member 1; targeted mutation 1, Gary E Shull MGI ID: MGI:2388372 Synonyms: Romk-, ROMK(-) Gene: Kcnj1  Location: Chr9:32283789-32310493 bp, + strand  Genetic Position: Chr9, 17.69 cM Alliance: Kcnj1tm1Ges page

Kcnj1tm1Ges/Kcnj1tm1Ges mice exhibit hydronephrosis Show the 1 phenotype image(s) involving this allele.

Germline Transmission:	Earliest citation of germline transmission: J:79354
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	129X1/SvJ

Allele Type:    Targeted (Null/knockout) Mutation:    Insertion   Mutation details: The exon encoding the majority the 391 amino acid protein product was disrupted by the insertion of a neomycin selection cassette. While normal transcript was undetected by Northern blot analysis of homozygous mutant mice, trace levels of an elongated transcript were detected with a 3' probe. (J:79354)

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

In Structures Affected by this Mutation:

4 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Kcnj1 Mutation:	29 strains or lines available

Original:	J:79354 Lorenz JN, et al., Impaired Renal NaCl Absorption in Mice Lacking the ROMK Potassium Channel, a Model for Type II Bartter's Syndrome. J Biol Chem. 2002 Oct 4;277(40):37871-80
All:	11 reference(s)