Lrp2b2b1625.2Clo
Chemically induced Allele Detail
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| Symbol: |
Lrp2b2b1625.2Clo |
| 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
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| Alliance: |
Lrp2b2b1625.2Clo page
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Mutant 1625-007-1 (E15.5) has hydrops and anopthalmia
Show the 6 phenotype image(s) involving this allele.
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| Strain of Origin: |
C57BL/6J
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| Project Collection: |
B2B/CvDC
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| Allele Type: |
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Chemically induced (ENU) |
| Mutation: |
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Single point mutation
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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,
Lrp2b2b1625.2Clo, and may be present in stocks carrying this mutation.
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Analysis Tools
