kavh
Spontaneous Allele Detail

Summary

• Symbol: kavh
• Name: kidney adysplasia and variable hydronephrosis
• MGI ID: MGI:5763628
• Gene: kavh Location: unknown Genetic Position: Chr12, Syntenic
• Alliance: kavh page

Mutation origin

• Strain of Origin: STOCK T(12;17)4Rk

Mutation description

• Allele Type: Spontaneous (Hypomorph)
• Mutation: Undefined
• Mutation details: The candidate gene Osr1 is the closest gene to the breakpoint in the T(12;17)4Rk translocation and likely the affected gene. However, sequencing did not reveal any lesions in the coding or non-coding sequence. In situ hybridization confirmed reduced transcript expression in the intermediate mesoderm of E9.5 embryos. (J:226961)
• Inheritance: Recessive

Expression

In Mice Carrying this Mutation:	2 assay results
In Structures Affected by this Mutation:	3 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 kavh Mutation: 0 strains or lines available

Notes

This mutation was identified in STOCK T(12;17)4Rk (generated in DBA/2J male with triethylenemelamine mated to a C57BL/6J female and backcrossed several generations to B6, AEJ/GnRk, and B6C3HF1 mice).

References

• Original: J:226961 Davisson MT, et al., Kidney adysplasia and variable hydronephrosis, a new mutation affecting the odd-skipped related 1 gene in the mouse, causes variable defects in kidney development and hydronephrosis. Am J Physiol Renal Physiol. 2015 Jun 15;308(12):F1335-42
• All: 1 reference(s)