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Ptk7chz
Chemically induced Allele Detail
Summary
Symbol: Ptk7chz
Name: PTK7 protein tyrosine kinase 7; chuzhoi
MGI ID: MGI:3640803
Gene: Ptk7  Location: Chr17:46875397-46940430 bp, - strand  Genetic Position: Chr17, 22.9 cM, cytoband B3
Alliance: Ptk7chz page
Ptk7chz/Ptk7chz mice exhibit multiple developmental abnormalities

Show the 8 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  BALB/cAnN
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation details: A single nucleotide substitution at the 3' end of Ptk7 intron nine (1475-10 A > G). This intron is of the GT-AG subtype, and the mutation creates a splice acceptor site with closer similarity to the consensus sequence than the wild-type. The new splice acceptor site results in a nine nucleotide insertion in the transcript which add the three amino acids alanine-asparagine-proline into the protein, after the fifth IG-like domain. (J:145068, J:163834)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 28 assay results
In Structures Affected by this Mutation: 14 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Ptk7 Mutation:  60 strains or lines available
References
Original:  J:163834 Paudyal A, et al., The novel mouse mutant, chuzhoi, has disruption of Ptk7 protein and exhibits defects in neural tube, heart and lung development and abnormal planar cell polarity in the ear. BMC Dev Biol. 2010;10:87
All:  4 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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Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory