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Rb1tm1Tyj
Targeted Allele Detail
Nomenclature
Symbol: Rb1tm1Tyj
Name: retinoblastoma 1; targeted mutation 1, Tyler Jacks
MGI ID: MGI:1857242
Synonyms: pRb-, Rb-, Rb1-, Rbx3t
Gene: Rb1  Location: Chr14:73183673-73325822 bp, - strand  Genetic Position: Chr14, 38.73 cM, cytoband D3
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 detailsA 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)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 24 assay results
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:  34 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 Rb1tm1Tyj 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:  113 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/20/2015
MGI 5.21
The Jackson Laboratory