Rb1^tm1Tyj
Targeted Allele Detail

Summary

• Symbol: Rb1^tm1Tyj
• Name: RB transcriptional corepressor 1; targeted mutation 1, Tyler Jacks
• MGI ID: MGI:1857242
• Synonyms: pRb^-, Rb-, Rb1^-, Rb^x3t
• Gene: Rb1 Location: Chr14:73430298-73563446 bp, - strand Genetic Position: Chr14, 38.73 cM, cytoband D3
• Alliance: Rb1^tm1Tyj page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:2511
• Parent Cell Line: D3 (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A PGK-neomycin resistance cassette replaced part of intron 3 and introduced three nucleotide changes into exon 3, creating two termination codons and a new PstI site. The authors predict translation of a truncated protein by the mutant allele. Immunoblot analysis of E12.5 brain did not detect full length RB1 protein in homozygous mice. (J:2511)

Disease models

Expression

In Mice Carrying this Mutation:	29 assay results 2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	23 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Rb1^tm1Tyj

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 5 strains available Cell Lines: 0 lines available
• Carrying any Rb1 Mutation: 106 strains or lines available

Notes

This is one of several targeted null mutations of Rb1 that have been created. Results appear to be similar for all the mutations (J:2498, J:2511, J:2516). Heterozygotes for the mutations show no predisposition to retinoblastoma. Homozygotes die in utero with neuronal and hematopoietic system abnormalities. Transfer of a human RB1 mini-transgene into the mutant mice corrects the defects (J:2516). On the other hand, transfer of the human gene into mice with a normal Rb1 genotype, causing overexpression of the gene product, produces mice dwarfed in proportion to the number of extra RB1 copies they carry (J:15042). Homozygous Rb^1tm1Tyj mutant mice given a transgene producing low levels of Rb1 product survive to birth, but die at that stage due to failure of myogenesis. Myoblasts undergo massive apoptosis, and surviving cells do not undergo terminal differentiation (J:37145).

References

• Original: J:2511 Jacks T, et al., Effects of an Rb mutation in the mouse [see comments]. Nature. 1992 Sep 24;359(6393):295-300
• All: 128 reference(s)