Kcnj1^tm1Ges
Targeted Allele Detail

Summary

• Symbol: Kcnj1^tm1Ges
• 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: Kcnj1^tm1Ges page

Kcnj1^tm1Ges/Kcnj1^tm1Ges mice exhibit hydronephrosis

Show the 1 phenotype image(s) involving this allele.

Mutation origin

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

Mutation description

• 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)

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• 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

References

• 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)