Evlb2b2600Clo
Chemically induced Allele Detail
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Symbol: |
Evlb2b2600Clo |
Name: |
Ena-vasodilator stimulated phosphoprotein; Bench to Bassinet Program (B2B/CVDC) mutation 2600, Cecilia Lo |
MGI ID: |
MGI:5560907 |
Gene: |
Evl Location: Chr12:108520979-108654775 bp, + strand Genetic Position: Chr12, 59.46 cM, cytoband F2
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Alliance: |
Evlb2b2600Clo page
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Mutant 2600-005-1 (E16.5) exhibits abnormal arrangement of the great arteries and thin ventricular walls which is diagnosed as DORV and ventricular non-compaction by EFIC imaging
Show the 9 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 mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is an A to G substitution at nucleotide +9 after coding nucleotide 1144 (c.1144+9A>G, NM_007965) in intron 12. This may affect splicing from the nearby splice donor site.
(J:175213)
Additional
incidental mutations
were detected in sequencing for the causative mutation,
Evlb2b2600Clo, 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 Phenotype: Double outlet right ventricle (DORV), DORV with sub aortic VSD, atroventricular septal defects (AVSD).
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