Amnb2b2259Clo
Chemically induced Allele Detail
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| Symbol: |
Amnb2b2259Clo |
| Name: |
amnionless; Bench to Bassinet Program (B2B/CVDC), mutation 2259 Cecilia Lo |
| MGI ID: |
MGI:5614775 |
| Gene: |
Amn Location: Chr12:111237530-111242860 bp, + strand Genetic Position: Chr12, 60.94 cM
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| Alliance: |
Amnb2b2259Clo page
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Mutant (E14.5) shows malpositioned outflow tracts with possible right aortic arch.
Show the 8 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 1370 in exon 12 of the cDNA (c.1370A>G, NM_033603). This changes the glutamic acid residue to glycine at position 457 of the encoded protein (p.E457G).
(J:175213)
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View phenotypes and curated references for all genotypes (concatenated display).
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| Mouse strains and cell lines
available from the International Mouse Strain Resource
(IMSR) |
| Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available
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| Carrying any Amn Mutation: |
19 strains or lines available
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Summative Diagnosis:
Cardiovascular phenotype: Double outlet right ventricle (DORV) with subaortic VSD, hypoplastic pulmonary artery, right aortic arch, aberrant left subclavian artery forming incomplete vascular ring, ventricular noncompaction, biventricular hypertrophy.
Non-cardiac phenotype: Micropthalmia, malalignmed sternum
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Analysis Tools
