This ENU-induced phenotypic deviant was isolated in a screen at the University of Pittsburgh and point mutations were found in Nadsyn1, Pepd, Exco1, Pcdha9, and Sap130, of which the point mutations in Pcdha9 and Sap130 were found to cause the phenotype of hypoplastic left heart syndrome. See Pcdha9b2b635.1Clo and Sap130b2b635.2Clo. (J:242757) Additional incidental mutations were detected in sequencing for the causative mutation, b2b635Clo, and may be present in stocks carrying this mutation.

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
C57BL/6J
Chemically induced
Undefined
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4

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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