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Pappam3Btlr
Chemically induced Allele Detail
Nomenclature
Symbol: Pappam3Btlr
Name: pregnancy-associated plasma protein A; mutation 3, Bruce Beutler
MGI ID: MGI:6286281
Synonyms: maennelein
Gene: Pappa  Location: Chr4:65124174-65357509 bp, + strand  Genetic Position: Chr4, 34.14 cM
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 G to A transition at base pair 65,314,796 (v38) on chromosome 4, or base pair 190,623 in the GenBank genomic region NC_000070 within the donor splice site of intron 16 (5-base pairs from exon 16 [out of 22 total exons]). The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is predicted to result in the use of a cryptic site in exon 16. The resulting transcript would have a 71-base pair deletion of exon 16, resulting in a frame-shifted protein product beginning after amino acid 1,365 of the protein (which is normally 1,624 amino acids in length) and terminating after the inclusion of 23 aberrant amino acids. (J:272861)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structures
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 Pappa Mutation:  3 strains or lines available
References
Original:  J:272861 Zhang Z, et al., Mutagenetix entry for maennelein. 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
09/10/2019
MGI 6.14
The Jackson Laboratory