Prdm1b2b1765Clo
Chemically induced Allele Detail
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Symbol: |
Prdm1b2b1765Clo |
Name: |
PR domain containing 1, with ZNF domain; Bench to Bassinet Program (B2B/CVDC), mutation 1765 Cecilia Lo |
MGI ID: |
MGI:5446157 |
Synonyms: |
Jigsaw |
Gene: |
Prdm1 Location: Chr10:44313173-44404497 bp, - strand Genetic Position: Chr10, 23.24 cM
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Alliance: |
Prdm1b2b1765Clo page
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Mutant 1765-005-6 (E15.5) exhibits a hypoplastic LV and hypoplastic aortic arch.
Show the 13 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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Single point mutation
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Mutation details: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is an A to G substitution at coding nucleotide 1625 of the cDNA (c.1625A>G, NM_007548). This changes the aspartic acid residue to glycine at position 542 of the encoded protein (p.D542G).
(J:175213)
Additional
incidental mutations
were detected in sequencing for the causative mutation,
Prdm1b2b1765Clo, 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:
Cardiac phenotype: Double outlet right ventricle (DORV), atrioventricular septal defect (AVSD), aortic arch anomalies including right aortic arch (RAA) and/or aberrant left subclavian artery, vascular ring, and aortic valve atresia
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