Dnaaf4b2b811.1Clo
Chemically induced Allele Detail
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| Symbol: |
Dnaaf4b2b811.1Clo |
| Name: |
dynein axonemal assembly factor 4; Bench to Bassinet Program (B2B/CVDC), mutation 811, subline 1 Cecilia Lo |
| MGI ID: |
MGI:5311375 |
| Synonyms: |
Dyx1c1shrp, Shar-pei, Sharpei |
| Gene: |
Dnaaf4 Location: Chr9:72866067-72880346 bp, + strand Genetic Position: Chr9, 40.08 cM, cytoband D
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| Alliance: |
Dnaaf4b2b811.1Clo page
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Mutant 811-058-LB exhibits inverted outflow that is diagnosed with overriding aorta by EFIC imaging
Show the 17 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 b2b811Clo. The molecular lesion for this subline is a T to A substitution at coding nucleotide 2 in exon 1 (c.2T>A, NM_001163725). This changes the methionine translation start residue to lysine at position 1 in the encoded protein.
Additional
incidental mutations
were detected in sequencing for the causative mutation,
Dnaaf4b2b811.1Clo, 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) with hypoplastic pulmonary artery, persistent truncus arteriosus (PTA), and atrioventricular septal defect (AVSD), small left ventricle (LV).
Noncardiovascular phenotype: Severe craniofacial defect with short snout, micrognathia, cleft lip and palate, hypoplastic thymus, hypoplastic lungs, renal anomalies, short gut, club limbs, bobtail, and syndatcyly.
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Analysis Tools
