Bpnt2^tm1.2Aros
Targeted Allele Detail

Summary

• Symbol: Bpnt2^tm1.2Aros
• Name: 3'(2'), 5'-bisphosphate nucleotidase 2; targeted mutation 1.2, Antonio Rossi
• MGI ID: MGI:6287463
• Synonyms: Impad1^D175N
• Gene: Bpnt2 Location: Chr4:4762484-4793306 bp, - strand Genetic Position: Chr4, 2.56 cM
• Alliance: Bpnt2^tm1.2Aros page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:273179
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Two versions of exon2, a wild-type and an inverted mutated exon 2 with a G to A transition at position 726 leading to an asparagine substitution for the aspartate at amino acid 175 were introduced in a head-to-head orientation which were flanked by the head-to-head lox71 and loxKR3 sites and separated by an frt-flanked neomycin cassette. This mutation corresponds to the p.Asp177>Asn mutation detected in a patient with chondrodysplasia with joint dislocations, gPAPP type. In addition, close to the mutation two silent mutations, c.716T>C and c.719C>T were inserted to generate a ClaI restriction site. Flp-mediated recombination removed the neomycin cassette. Germline cre-mediated recombination results in stable inversion of the two exons and expression of the mutation. RT-PCR of homozygotes shows absence of the transcript seen in wild-type mice but shows two transcript variants that lack exon 2 or exon 2 and exon 3, indicating altered splicing of the modified allele. If translated, these would lead to premature stop codons. (J:273179)

Disease models

Expression

In Structures Affected by this Mutation:

7 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 Bpnt2 Mutation: 18 strains or lines available

References

• Original: J:273179 Capulli M, et al., Testing the Cre-mediated genetic switch for the generation of conditional knock-in mice. PLoS One. 2019;14(3):e0213660
• All: 1 reference(s)