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BY367451tm1.1Mdk
Targeted Allele Detail
Summary
Symbol: BY367451tm1.1Mdk
Name: cDNA sequence, BY367451; targeted mutation 1.1, Michael D Koob
MGI ID: MGI:3664544
Synonyms: Atxn8ostm1.1Mdk, Klhl1delta
Gene: BY367451  Location: Chr14:96794007-96794446 bp  Genetic Position: Chr14, Syntenic
Alliance: BY367451tm1.1Mdk 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 detailsCre 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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 BY367451 Mutation:  0 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:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/09/2024
MGI 6.23
The Jackson Laboratory