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Acanb2b183Clo
Chemically induced Allele Detail
Summary
Symbol: Acanb2b183Clo
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: Acanb2b183Clo 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 detailsThis 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, Acanb2b183Clo, and may be present in stocks carrying this mutation.
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:  80 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)

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
10/29/2024
MGI 6.24
The Jackson Laboratory