b2b635Clo
Chemically induced Allele Detail
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| Symbol: |
b2b635Clo |
| Name: |
Mutant line 635; Bench to Bassinet Program (B2B/CVDC), mutation 635 Cecilia Lo |
| MGI ID: |
MGI:5311367 |
| Synonyms: |
Ohia |
| Gene: |
b2b635Clo Location: unknown
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| Alliance: |
b2b635Clo page
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Mutant 635-004-NA exhibits hypoplastic left ventricle and ascending arch hypoplasia, which was diagnosed as HLHS by EFIC imaging
Show the 16 phenotype image(s) involving this allele.
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| Strain of Origin: |
C57BL/6J
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| Project Collection: |
B2B/CvDC
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| Allele Type: |
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Chemically induced (ENU) |
| Mutation: |
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Undefined
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Mutation details: 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.
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View phenotypes and curated references for all genotypes (concatenated display).
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Summative Diagnosis:
Cardiovascular defects: Hypoplastic left ventricle, hypoplastic aortic valve and mitral valve, ascending aorta hypoplasia.
Non-cardiovascular defects: Micrognathia and kinked tail
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Analysis Tools
