Klhl1/Atxn8os^tm1.1Mdk
Targeted Allele Detail

Summary

• Symbol: Klhl1/Atxn8os^tm1.1Mdk
• Name: kelch-like 1; targeted mutation 1.1, Michael D Koob
• MGI ID: MGI:3664543
• Synonyms: Klhl1^delta, Klhl1/Klhl1as^tm1.1Mdk
• Gene: Klhl1 Location: Chr14:96342695-96756525 bp, - strand Genetic Position: Chr14, 46.92 cM, cytoband E2.1
• Alliance: Klhl1/Atxn8os^tm1.1Mdk page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:112937
• Parent Cell Line: CJ7 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intergenic deletion
• Mutation details: Cre mediated excision resulted in the removal of exon 1 from Klhl1. The deleted sequence contains the CpG-rich promoter region, the transcription initiation site, the first splice donor site, and the first exon portion of the coding frame. The entire genomic sequence transcribed by the Klhl1as and the predicted promoter region were also absent. RT-PCR and Northern blot confirmed the absence of Klhl1 transcript. (J:112937)

Expression

In Structures Affected by this Mutation:

1 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 Klhl1 Mutation: 52 strains or lines available

References

• Original: J:112937 He Y, et al., Targeted deletion of a single Sca8 ataxia locus allele in mice causes abnormal gait, progressive loss of motor coordination, and Purkinje cell dendritic deficits. J Neurosci. 2006 Sep 27;26(39):9975-82
• All: 3 reference(s)