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Chemically induced Allele Detail
Symbol: Lrp1b2b1554Clo
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
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.

Strain of Origin:  C57BL/6J
Project Collection: B2B/CvDC
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 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, Lrp1b2b1554Clo, and may be present in stocks carrying this mutation.
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 5 anatomical structures
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:  134 strains or lines available
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

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). 2011-15;
All:  3 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
MGI 6.21
The Jackson Laboratory