b2b1468Clo
Chemically induced Allele Detail
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| Symbol: |
b2b1468Clo |
| Name: |
Mutant line 1468, Cecilia Lo; Bench to Bassinet Program (B2B/CVDC), mutation 1468 Cecilia Lo |
| MGI ID: |
MGI:5696350 |
| Synonyms: |
Hunchback |
| Gene: |
b2b1468Clo Location: unknown
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| Alliance: |
b2b1468Clo 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 16 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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Nucleotide substitutions
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Mutation details: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. More than one mutation in this line results in a discernible phenotype in a homozygous recessive screen. At least two segregating phenotype groups are identified. See Cntrlb2b1468.1Clo and Dnah11b2b1468.2Clo.
(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 b2b1468Clo Mutation: |
0 strains or lines available
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Summative Diagnosis:
Mutant Type 1:
Cardiovascular phenotypes: Double outlet right ventricle (DORV), atrioventricular septal defect (AVSD), ventricular septal defects (VSD)
Noncardiovascular phenotype: Cystic kidney, tubular dilations, hydroureter, and hydronephrosis
Mutant Type 2:
Cardiovascular phenotypes: Situs inversus with mirror image dextrocardia
Noncardiovascular phenotype: Immotile cilia in the tracheal airway epithelia
Phenotypic Similarity to Human Syndrome:
Mutant Type 1:
Nephronophthisis
Mutant Type 2:
Primary ciliary dyskinesia
Kartagener's syndrome
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Analysis Tools
