Ptk7^chz
Chemically induced Allele Detail

Summary

• Symbol: Ptk7^chz
• 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: Ptk7^chz page

Ptk7^chz/Ptk7^chz 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

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Ptk7 Mutation: 57 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: 3 reference(s)