Pappa2^m3Btlr
Chemically induced Allele Detail

Summary

• Symbol: Pappa2^m3Btlr
• Name: pappalysin 2; mutation 3, Bruce Beutler
• MGI ID: MGI:6113589
• Synonyms: lilliputian3
• Gene: Pappa2 Location: Chr1:158539297-158788019 bp, - strand Genetic Position: Chr1, 68.49 cM
• Alliance: Pappa2^m3Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Undefined
• Mutation details: ENU-induced to A transversion at base pair 158,782,403 (v38) on chromosome 1, or base pair 198,125 in the GenBank genomic region NC_000067 within intron 15 (nine base pairs from exon 16). 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 intron 15. The resulting transcript would have a 7-base pair insertion of intron 15, which would cause a frame-shifted protein product beginning after amino acid 1,499 of the protein and premature termination after the inclusion of 10 aberrant amino acids. (J:254896)
• 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 Pappa2 Mutation: 88 strains or lines available

References

• Original: J:254896 Turer E, et al., Mutagenetix entry for lilliputian3. MGI Direct Data Submission. 2018
• All: 1 reference(s)