Notch2^tm1.1Hhtg
Targeted Allele Detail

Summary

• Symbol: Notch2^tm1.1Hhtg
• Name: notch 2; targeted mutation 1.1, Irm Hermans-Borgmeyer
• MGI ID: MGI:6766469
• Synonyms: Notch2^F2091SfsX4, Notch2^HCS
• Gene: Notch2 Location: Chr3:97920854-98057683 bp, + strand Genetic Position: Chr3, 42.42 cM
• Alliance: Notch2^tm1.1Hhtg page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:311038
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Intragenic deletion
• Mutation details: The T at position 6272 in exon 34 was deleted. An FRT-flanked PGK/gb2-neomycin cassette was inserted upstream of exon 34 and was removed via flp-mediated recombination. The 6272delT mutation results in a premature stop codon eight nucleotides further downstream (p.Phe2091SerfsX4). This is a Hajdu Cheney Syndrome-associated mutation. (J:311038)

Disease models

Expression

In Structures Affected by this Mutation:

8 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

References

• Original: J:311038 Vollersen N, et al., High Bone Turnover in Mice Carrying a Pathogenic Notch2 Mutation Causing Hajdu-Cheney Syndrome. J Bone Miner Res. 2018 Jan;33(1):70-83
• All: 2 reference(s)