Trp53bp2^tm1Xlu
Targeted Allele Detail

Summary

• Symbol: Trp53bp2^tm1Xlu
• Name: transformation related protein 53 binding protein 2; targeted mutation 1, Xin Lu
• MGI ID: MGI:3625686
• Synonyms: ASPP2, ASPP2 deltaexon3
• Gene: Trp53bp2 Location: Chr1:182236737-182289997 bp, + strand Genetic Position: Chr1, 84.93 cM
• Alliance: Trp53bp2^tm1Xlu page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:108701
• Parent Cell Line: IT2 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Hypomorph, Modified isoform(s))
• Mutations: Insertion, Intragenic deletion
• Mutation details: A targeting vector replaced exon 3. RT-PCR of brain tissue from E13.5 homozygous mutant embryos did not detect 368 bp wild-type product but did detect a 268-bp product. Western analyses using polyclonal antibodies to either N-terminal or mid-protein sequences did not detect protein in brain tissue from homozygous mutant E13.5 embryos.
  The exon 3 deletion is an in-frame deletion causing only the major isoform of Trp53bp2 to be deleted completely; low levels of shorter forms of Trp53bp2 can be expressed. Therefore Trp53bp23 acts as a hypomorphic allele. (J:108701, J:240594)

Disease models

Expression

In Mice Carrying this Mutation:	4 assay results
In Structures Affected by this Mutation:	33 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Trp53bp2^tm1Xlu

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 Trp53bp2 Mutation: 53 strains or lines available

References

• Original: J:108701 Vives V, et al., ASPP2 is a haploinsufficient tumor suppressor that cooperates with p53 to suppress tumor growth. Genes Dev. 2006 May 15;20(10):1262-7
• All: 8 reference(s)