Kcnq1<tm1Apf> Targeted Allele Detail MGI Mouse (MGI:1931858)

Kcnq1^tm1Apf
Targeted Allele Detail

Summary

Symbol:	Kcnq1^tm1Apf
Name:	potassium voltage-gated channel, subfamily Q, member 1; targeted mutation 1, Andrew P Feinberg
MGI ID:	MGI:1931858
Synonyms:	Kvlqt1-
Gene:	Kcnq1 Location: Chr7:142660614-142980787 bp, + strand Genetic Position: Chr7, 88.12 cM
Alliance:	Kcnq1^tm1Apf page

Cochlear abnormalities in Kcnq1^tm1Apf/Kcnq1^tm1Apf mice

Show the 3 phenotype image(s) involving this allele.

Mutation
origin

Germline Transmission:	Earliest citation of germline transmission: J:66428
Parent Cell Line:	E14 (ES Cell)
Strain of Origin:	129P2/OlaHsd

Mutation
description

Allele Type:		Targeted (Null/knockout)
Mutation:		Insertion
		Mutation details: Insertion of a neomycin resistance cassette into exon 1 disrupted the gene. The authors predict that all isoforms of the protein would be inactivated in homozygous mutant animals. RT-PCR did not detect expression of the tanscript in tissues of homozygous mice. (J:66428)

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Expression

In Structures Affected by this Mutation:

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 Kcnq1 Mutation:	43 strains or lines available

References

Original:	J:66428 Lee MP, et al., Targeted disruption of the kvlqt1 gene causes deafness and gastric hyperplasia in mice. J Clin Invest. 2000 Dec;106(12):1447-55
All:	3 reference(s)

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