Notch2^tm1.1Ecan
Targeted Allele Detail

Summary

• Symbol: Notch2^tm1.1Ecan
• Name: notch 2; targeted mutation 1.1, Ernesto Canalis
• MGI ID: MGI:5803717
• Synonyms: Notch2HCS, Notch2^Q2319X
• Gene: Notch2 Location: Chr3:97920854-98057683 bp, + strand Genetic Position: Chr3, 42.42 cM
• Alliance: Notch2^tm1.1Ecan page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:230045
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129 or C57BL/6J

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutations: Insertion, Single point mutation
• Mutation details: A 6955C to T mutation was introduced into the locus, creating a stop codon in exon 34 and leading to a Q2319X amino acid change with a truncated protein of 2318 amino acids. In addition a loxP flanked PGK-neo cassette was inserted about 400 nucleotides upstream of exon 34 which was removed via cre-mediated recombination. This mutation corresponds to the 6949C to T mutation in the human gene in Hajdu Cheney Syndrome. qRT-PCR confirmed expression of mutant RNA transcript. (J:230045)

Disease models

Expression

In Structures Affected by this Mutation:

5 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 Notch2 Mutation: 99 strains or lines available

Notes

In J:230045, authors state "ES cells derived from an F1 129Sv/C57BL/6J embryo."

References

• Original: J:230045 Canalis E, et al., Hajdu Cheney Mouse Mutants Exhibit Osteopenia, Increased Osteoclastogenesis, and Bone Resorption. J Biol Chem. 2016 Jan 22;291(4):1538-51
• All: 10 reference(s)