Slit3b2b2362.1Clo
Chemically induced Allele Detail
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Symbol: |
Slit3b2b2362.1Clo |
Name: |
slit guidance ligand 3; Bench to Bassinet Program (B2B/CVDC) mutation 2362, subline 1, Cecilia Lo |
MGI ID: |
MGI:5560156 |
Gene: |
Slit3 Location: Chr11:35012283-35599334 bp, + strand Genetic Position: Chr11, 20.29 cM, cytoband A5
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Alliance: |
Slit3b2b2362.1Clo page
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Mutant 2362-004-1 (E16.5) exhibits ectopia cordis, ventricular non-compaction, and gastroschisis with a body wall closure defect
Show the 12 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 b2b2362Clo. The molecular lesion for this subline is attributed to a G to T substitution at coding nucleotide postion 3538 in exon 31 of the cDNA (c.3538G>T, NM_011412). This changes the alanine residue to serine at position 1180 of the expressed protein (p.A1180S).
(J:175213)
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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 (including Taussig-Bing subtype, DORV) with atrioventricular septal defect (AVSD), ventricular septal defects (VSD), and ventricular non-compaction. In one mutant this was accompanied by ectopia cordis.
Noncardiovascular Phenotype (one mutant): Gastroschisis with ectopia cordis, hypoplastic kidneyl with some glomerular cysts
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