Lrp2^b2b2671Clo
Chemically induced Allele Detail

Summary

• Symbol: Lrp2^b2b2671Clo
• Name: low density lipoprotein receptor-related protein 2; Bench to Bassinet Program (B2B/CVDC), mutation 2671 Cecilia Lo
• MGI ID: MGI:5560499
• Gene: Lrp2 Location: Chr2:69254679-69416373 bp, - strand Genetic Position: Chr2, 40.74 cM
• Alliance: Lrp2^b2b2671Clo page

Mutant 2671-006-3 (E16.5) exhibits PTA with a RAA and thin ventricle wall which is confirmed by EFIC imaging as ventricular non-compaction

Show the 23 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 6612 in exon 39 of the cDNA (c.6612T>A, NM_001033385). This changes the tyrosine residue to a translation stop at position 2204 of the encoded protein (p.Y2204*). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Lrp2^b2b2671Clo, and may be present in stocks carrying this mutation.

Expression

In Structures Affected by this Mutation:

10 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Lrp2 Mutation: 261 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular Phenotype: Persistent truncus arteriosis (PTA, Type A1, A2, A4), permembranous ventricular septal defects (pmVSD) and muscular ventricular septal defect (mVSD), right aortic arch (RAA), ventricular non-compaction, ventricular hypertrophy
Noncardiovascular Phenotype: Short snout, anophthalmia/microphthalmia, short snount/micrognathia, hypoplastic thymus, incomplete closure of the umbilical herniation, cystic kidneys, hydrnephrosis, hooked tail

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
0500	Truncus arteriosus
1300	Ventricular septal defect
1310	Ventricular septal defect, membranous
1320	Ventricular septal defect, muscular
1802	Excessive myocardial trabeculation or noncompaction
2700	Abnormal aortic arch
2720	Right aortic arch
4163	Micrognathia
4502	Hydronephrosis
4864	Anophthalmia
4877	Microphthalmia
4906	Non-cardiac abnormality
4907	Non-cardiac thoracic abnormality
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: 3 reference(s)