Mdm4^tm2.1Tldo
Targeted Allele Detail

Summary

• Symbol: Mdm4^tm2.1Tldo
• Name: MDM4 regulator of p53; targeted mutation 2.1, Franck Toledo
• MGI ID: MGI:8433202
• Synonyms: Mdm4^TM
• Gene: Mdm4 Location: Chr1:132913843-132958325 bp, - strand Genetic Position: Chr1, 57.75 cM, cytoband G-G
• Alliance: Mdm4^tm2.1Tldo page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:288784
• Parent Cell Line: CK35 (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details:

  Threonine codon 454 (ACG) was changed to methionine (ATG) (p.T454M) and a loxP site flanked neomycin resistance gene cassette was inserted downstream of the gene. The neo cassette was removed through subsequent Cre-mediated recombination. The mutation is the equivalent of the same human mutation identified in a family with bone marrow hypocellularity and short telomeres and in homozygous mice leads to short telomeres and perinatal death. (J:288784)

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 Mdm4 Mutation: 192 strains or lines available

References

• Original: J:288784 Toufektchan E, et al., Germline mutation of MDM4, a major p53 regulator, in a familial syndrome of defective telomere maintenance. Sci Adv. 2020 Apr;6(15):eaay3511
• All: 1 reference(s)