Cntrlb2b1468.1Clo
Chemically induced Allele Detail
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Symbol: |
Cntrlb2b1468.1Clo |
Name: |
centriolin; Bench to Bassinet Program (B2B/CVDC), mutation 1468, subline 1 Cecilia Lo |
MGI ID: |
MGI:5438058 |
Synonyms: |
Cep110b2b1468.1Clo, Hunchback |
Gene: |
Cntrl Location: Chr2:34999504-35068834 bp, + strand Genetic Position: Chr2, 23.36 cM, cytoband B-C1
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Alliance: |
Cntrlb2b1468.1Clo page
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Mutant 1468-003-4 (E15.5) displays right aortic arch, hypoplastic transverse arch, and malpositioning of the great arteries which is diagnosed as double outlet right ventricle (DORV) by ECM histopathology.
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. It is a subline of b2b1468Clo. The molecular lesion for this subline is a T to C substitution at coding nucleotide 1886 in exon 13 (c.1886T>C, NM_012018). This changes the isoleucine residue to threonine at position 629 in the encoded protein (p.I629T).
(J:175213)
Additional
incidental mutations
were detected in sequencing for the causative mutation,
Cntrlb2b1468.1Clo, 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 phenotypes: Double outlet right ventricle (DORV), atrioventricular septal defect (AVSD), ventricular septal defects (VSD)
Noncardiovascular phenotype: Cystic kidney, tubular dilations, hydroureter, and hydronephrosis
Phenotypic Similarity to Human Syndrome:
Nephronophthisis
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