Kctd1^Mhdahst014
Chemically induced Allele Detail

Summary

• Symbol: Kctd1^Mhdahst014
• Name: potassium channel tetramerisation domain containing 1; Martin Hrabe de Angelis Hst014
• MGI ID: MGI:5910041
• Synonyms: HST014, Kctd1I27N, Kctd1^I27N
• Gene: Kctd1 Location: Chr18:15101742-15284503 bp, - strand Genetic Position: Chr18, 8.28 cM
• Alliance: Kctd1^Mhdahst014 page

Mutation origin

• Strain of Origin: C3HeB/FeJ

Mutation description

• Allele Type: Chemically induced (ENU) (Dominant negative, Null/knockout)
• Mutation: Single point mutation
• Mutation details: The molecular lesion responsible for the phenotype is a point mutation resulting in a T-to-A transversion at nucleotide 80 (ENSMUST00000025992.6, 265-amino-acid isoform), leading to an amino acid exchange from isoleucine to asparagine at position 27, thereby affecting the functional BTB domain of the protein. The mutation presumably causes a loss of function via a dominant-negative mechanism. (J:250423)
• Inheritance: Dominant

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	2 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 Kctd1 Mutation: 39 strains or lines available

References

• Original: J:250423 Kumar S, et al., Standardized, systemic phenotypic analysis reveals kidney dysfunction as main alteration of Kctd1 (I27N) mutant mice. J Biomed Sci. 2017 Aug 17;24(1):57
• All: 1 reference(s)