Pappa^m3Btlr
Chemically induced Allele Detail

Summary

• Symbol: Pappa^m3Btlr
• Name: pregnancy-associated plasma protein A; mutation 3, Bruce Beutler
• MGI ID: MGI:6286281
• Synonyms: maennelein
• Gene: Pappa Location: Chr4:65042411-65275746 bp, + strand Genetic Position: Chr4, 34.14 cM
• Alliance: Pappa^m3Btlr 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 details: ENU-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

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 Pappa Mutation: 72 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)