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Robo1b2b872Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Robo1b2b872Clo
Name: roundabout guidance receptor 1; Bench to Bassinet Program (B2B/CVDC) mutation 872, Cecilia Lo
MGI ID: MGI:5496051
Synonyms: c.T809C, Mulan Rocket, p.I270T
Gene: Robo1  Location: Chr16:72308306-73046095 bp, + strand  Genetic Position: Chr16, 41.08 cM
Mutant 872-004-LA exhibits dilated atria, with biventricular hypertrophy noted by histopathology

Show the 33 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: B2B/CvDC
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThis ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to C substitution at coding nucleotide position 809 in exon 6 of the cDNA (c.809T>C, NM_019413). This changes the isoleucine residue to threonine at position 270 of the encoded protein (p.I270T). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Robo1b2b872Clo, and may be present in stocks carrying this mutation.
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 7 anatomical structures
Find Mice (IMSR)
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
Carrying any Robo1 Mutation:  8 strains or lines available
Notes
Summative Diagnosis:
Cardiac phenotype: Double outlet right ventricle (DORV), ventricular septal defect (VSD), biventricular hypertrophy
Non-cardiac phenotype: Micrognathia, cleft palate, renal abnormality comprising of multiple/duplex, cystic and dysplastic kidney, hydroureter and hydronephrosis, abnormal gonad placement

Fyler Codes
The Fyler code developed by The Boston Children's Heart Foundation in Boston Children's Hospital provides a hierarchical clinical diagnosis of congenital cardiovascular defects and other disorders. These codes are used to delineate pathology in the mutant mouse models that parallel human disease and can be cross referenced to the International Pediatric and Congenital Cardiac Code (IPCCC) (http://www.ipccc.net/).

Fyler Code ID Code Description
0600 Double outlet right ventricle
1300 Ventricular septal defect
4163 Micrognathia
4502 Hydronephrosis
4508 Polycystic kidney disease
4876 Cleft palate
7505 Biventricular hypertrophy

References
Original:  J:175213 Lo C, Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC). MGI Direct Data Submission (B2B/CvDC). 2011-15;
All:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
10/08/2019
MGI 6.14
The Jackson Laboratory