Acan^b2b183Clo
Chemically induced Allele Detail

Summary

• Symbol: Acan^b2b183Clo
• Name: aggrecan; Bench to Bassinet Program (B2B/CVDC), mutation 183 Cecilia Lo
• MGI ID: MGI:5297419
• Synonyms: Sancho Panza
• Gene: Acan Location: Chr7:78703231-78764847 bp, + strand Genetic Position: Chr7, 44.88 cM
• Alliance: Acan^b2b183Clo page

Biventricular hypertrophy confirmed by EFIC imaging

Show the 11 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 A substitution at coding nucleotide 1032 in exon 6 of the cDNA (c.1032T>A, NM_007424). This changes the tyrosine residue to a translation stop at position 344 of the encoded protein (p.Y344*). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Acan^b2b183Clo, and may be present in stocks carrying this mutation.

Expression

In Structures Affected by this Mutation:

2 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 Acan Mutation: 77 strains or lines available

Notes

Summative Diagnosis
Cardiovascular defects: Biventricular hypertrophy
Non-cardiovascular defects: Cleft palate, Disproportionate dwarfism with brachypodism
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
1845	Hypertrophic cardiomyopathy
4876	Cleft palate

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: 2 reference(s)