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Pappa2M4Btlr
Chemically induced Allele Detail
Summary
Symbol: Pappa2M4Btlr
Name: pappalysin 2; mutation 4, Bruce Beutler
MGI ID: MGI:6283598
Synonyms: Pitzel
Gene: Pappa2  Location: Chr1:158539297-158788019 bp, - strand  Genetic Position: Chr1, 68.49 cM
Alliance: Pappa2M4Btlr page
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
Allele Type:    Chemically induced (ENU) (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsENU-induced A to T transversion at base pair 158,956,645 (v38) on chromosome 1, or base pair 23,883 in the GenBank genomic region NC_000067. The mutation corresponds to residue 794 in the mRNA sequence NM_001085376 within exon 1 of 22 total exons. The mutation results in a tyrosine to phenylalanine substitution at position 265 (Y265F) in the PAPP-A2 protein. (J:271978)
Inheritance:    Dominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Pappa2 Mutation:  88 strains or lines available
Notes
https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=3640
References
Original:  J:271978 Zhang Z, et al., Mutagenetix entry for Pitzel. MGI Direct Data Submission. 2019;
All:  1 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
10/29/2024
MGI 6.24
The Jackson Laboratory