Robo1^b2b872Clo
Chemically induced Allele Detail

Summary

• Symbol: Robo1^b2b872Clo
• 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, Robo1^I270T
• Gene: Robo1 Location: Chr16:72105194-72842983 bp, + strand Genetic Position: Chr16, 41.08 cM
• Alliance: Robo1^b2b872Clo page

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 details: This 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, Robo1^b2b872Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

6 anatomical structure(s)

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: 87 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). 2011-09-12
• All: 4 reference(s)