Lrp1^b2b1554Clo
Chemically induced Allele Detail

Summary

• Symbol: Lrp1^b2b1554Clo
• Name: low density lipoprotein receptor-related protein 1; Bench to Bassinet Program (B2B/CVDC), mutation 1554 Cecilia Lo
• MGI ID: MGI:5437079
• Synonyms: Marshmellow
• Gene: Lrp1 Location: Chr10:127374030-127457017 bp, - strand Genetic Position: Chr10, 74.52 cM, cytoband B2-D1
• Alliance: Lrp1^b2b1554Clo page

Mutant 1554-004-1 (E14.5) exhibits gastroschisis with liver and gut outside the abdominal cavity (celoschisis)

Show the 20 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 C substituation at coding nucleotide 12694 in exon 82 of the cDNA (c.12694T>C, NM_008512). This changes the cysteine residue to arginine at position 4232 of the encoded protein (p.C4232R). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Lrp1^b2b1554Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

5 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 Lrp1 Mutation: 211 strains or lines available

Notes

Summative Diagnosis:
Cardiac phenotype: Outflow tract anomalies including pulmonary stenosis (PS) and persistent truncus arteriosus (PTA), atrioventricular septal defects (AVSD)
Noncardiac phenotype: Body wall closure defects - gastroschisis/celoschisis/omphalocele, diaphragmatic hernia

Phenotypic Similarity to Human Syndrome: Diaphragmatic hernia, gastroschisis, celoschisis, omphalocele

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
1100	Atrioventricular canal (endocardial cushion defect)
1610	Pulmonary stenosis
3950	{S,D,D}
4404	Omphalocele
4414	Gastroschisis

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)