Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Pcdha9b2b635.1Clo
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:	Pcdha9b2b635.1Clo page

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

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 Sap130b2b635.2Clo. (J:242757) Inheritance:    Recessive

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

In Structures Affected by this Mutation:

3 anatomical structure(s)

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

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)