Psme4^b2b1508Clo
Chemically induced Allele Detail

Summary

• Symbol: Psme4^b2b1508Clo
• Name: proteasome (prosome, macropain) activator subunit 4; Bench to Bassinet Program (B2B/CVDC), mutation 1508 Cecilia Lo
• MGI ID: MGI:5437081
• Synonyms: Oscar
• Gene: Psme4 Location: Chr11:30721726-30830361 bp, + strand Genetic Position: Chr11, 18.16 cM
• Alliance: Psme4^b2b1508Clo page

Mutant 1508-006-LA displays heterotaxy, as indicated by levocardia, anterior positioning of the aorta, right pulmonary isomerism, right sided stomach, and abnormal liver lobation

Show the 27 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 an A to G substitution at coding nucleotide 3247 in exon 28 of the cDNA (NM_134013:c.A3247G). This changes the isoleucine residue to valine at position 1083 of the encoded protein (p.I1083V). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Psme4^b2b1508Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

8 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 Psme4 Mutation: 96 strains or lines available

Notes

Summative Diagnosis:
Cardiac phenotype: Congenital heart diseases associated with heterotaxy including dextrocardia/mesocardia, transposition of great artery (TGA) with tricuspid atresia, Taussig-Bing type double outlet right ventricle (DORV), atrioventricular septal defect (AVSD), muscular VSD, right sided aortic arch (RAA) and aortic arch anomalies, duplicated inferior vena cava (IVC)
Noncardiac phenotype: Thymus hypoplasia, right pulmonary isomerism, midline liver
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
0190	Heterotaxy Syndrome
0400	Tricuspid atresia
0610	DORV, Taussig bing
0700	D-loop transposition of the great arteries
1100	Atrioventricular canal (endocardial cushion defect)
3804	Congenital heart disease
3950	{S,D,D}
3951	{S,D,L}
3988	{A,L,L}

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)