Pcdha9^b2b635.1Clo
Chemically induced Allele Detail

Summary

• Symbol: Pcdha9^b2b635.1Clo
• Name: protocadherin alpha 9; Bench to Bassinet Program (B2B/CVDC), mutation 635.1 Cecilia Lo
• MGI ID: MGI:5906282
• Gene: Pcdha9 Location: Chr18:37130933-37320710 bp, + strand Genetic Position: Chr18, 19.46 cM
• Alliance: Pcdha9^b2b635.1Clo page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: B2B/CvDC

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is one of five changes identified in the mutant line b2b635Clo, also called Ohia. The molecular lesion in this gene is a C to T substitution at coding nucleotide 2378 in exon 1 of the cdNA (c.2378C>T, NM_138661) This changes the proline residue to leucine at position 793 of the encoded protein (p.P793L). The mutant phenotype in line 635 segregates with distinct mutations in two genes, Sap130 and Pcdha9. See also Sap130^b2b635.2Clo. (J:242757)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

3 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 Pcdha9 Mutation: 45 strains or lines available

References

• Original: J:242757 Liu X, et al., The complex genetics of hypoplastic left heart syndrome. Nat Genet. 2017 Jul;49(7):1152-1159
• All: 3 reference(s)