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| Nomenclature |
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Symbol:
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Rb1tm1Tyj
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Name:
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retinoblastoma 1;
targeted mutation 1, Tyler Jacks
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MGI ID: |
MGI:1857242 |
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Synonyms: |
pRb-, Rb-, Rb1-, Rbx3t |
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Gene:
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Rb1
Location:
Chr14:73183673-73325822 bp, - strand
Genetic Position: Chr14,
38.73 cM, cytoband D3
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:2511
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Parent Cell Line:
| D3 (ES Cell) |
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Strain of Origin:
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129S2/SvPas
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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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).
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| References |
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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
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All: |
109 reference(s)
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Analysis Tools
