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Allele : Pjvk<tm1Ugds> pejvakin; targeted mutation 1, Unite de Genetique des Deficits Sensoriels

Primary Identifier	MGI:3654320	Allele Type	Targeted
Attribute String	Humanized sequence	Gene	Pjvk
Transmission	Germline	Strain of Origin	129S2/SvPas
Is Recombinase	false	Is Wild Type	false

molecularNote

An R183W mutation was inserted into exon 3 via homologous recombination. A floxed neo cassette was removed by Cre mediated recombination. Expression pattern of the mutant protein is similar to wild-type.

mutations:
Single point mutation

cellLines:
Not Specified

earliestPublication:
Delmaghani S, et al. (2006) Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy. Nat Genet 38(7):770-8

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

Other

0 Carried By

0 Driven By

4 Publication categories

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