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Allele : Pcdha9<b2b635.1Clo> protocadherin alpha 9; Bench to Bassinet Program (B2B/CVDC), mutation 635.1 Cecilia Lo

Primary Identifier  MGI:5906282 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Pcdha9
Inheritance Mode  Recessive Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
molecularNote  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.
  • mutations:
  • Single point mutation
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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2 Carried By

Trail: Allele

0 Driven By

5 Publication categories

Trail: Allele