Lrp2^b2b1625.2Clo
Chemically induced Allele Detail

Summary

• Symbol: Lrp2^b2b1625.2Clo
• Name: low density lipoprotein receptor-related protein 2; Bench to Bassinet Program (B2B/CVDC), mutation 1625, subline 2 Cecilia Lo
• MGI ID: MGI:5489925
• Gene: Lrp2 Location: Chr2:69254679-69416373 bp, - strand Genetic Position: Chr2, 40.74 cM
• Alliance: Lrp2^b2b1625.2Clo page

Mutant 1625-007-1 (E15.5) has hydrops and anopthalmia

Show the 6 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. It is a subline of b2b1625Clo. The molecular lesion is an A to G substitution at nucleotide -3 before coding nucleotide 8456 (c.8456-3A>G, NM_001081088) in intron 44. This changes splice acceptor site AAG to TAG (which may have a different efficiency). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Lrp2^b2b1625.2Clo, and may be present in stocks carrying this mutation.

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

This mutation is present in a subline of b2b1625Clo.

Summative Diagnosis:
Cardiac phenotype: Persistent truncus arteriosus (PTA), aortic arch anomalies, vascular ring
Noncardiac phenotype: Agnathia, microstomia, holoprosencephaly, omphalocele, low set ears

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
0510	Truncus arteriosus type i
4404	omphalocele
2760	Vascular ring

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)