B6;129P2-Rnf2tm1.1Hgu/HguH
| Status | Available to order |
| EMMA ID | EM:12428 |
| International strain name | B6;129P2-Rnf2tm1.1Hgu/HguH |
| Alternative name | Rnf2 I53A (Ring1B I53A) |
| Strain type | Targeted Mutant Strains : Point mutation |
| Allele/Transgene symbol | Rnf2tm1.1Hgu, |
| Gene/Transgene symbol | Rnf2 |
Information from provider
| Provider | Ian Adams |
| Provider affiliation | MRC Human Genetics Units |
| Genetic information | Rnf2 (Ring1B) encodes a catalytic subunit of canonical and variant polycomb repressive complex 1 (PRC1) that mediates monoubiquitination of histone H2. The I53A mutation introduced into exon 3 of Rnf2 by gene targeting in embryonic stem cells disrupts the interaction between RING1B with the E2 ubiquitin ligase UBCH5C, interfering with the ability of RING1B to act as an E3 ligase but without perturb the incorporation of RING1B into canonical and variant PRC1 complexes. This allele can be used to investigate the in vivo roles of Ring1B-dependent ubiquitination (Illingworth et al., Genes & Dev. 2015. 29:1897-1902; doi:10.1101/gad.268151.115). |
| Phenotypic information | Homozygous:Embryonic lethality, sub-Mendelian ratios of homozygotes from E9.5 onwards. No viable homozygotes observed beyond E15.5.Heterozygous:No overt phenotypes or defects. |
| Breeding history | Chimaeric founders backcrossed 4 times to C57BL/6J. |
| References |
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| Homozygous fertile | no |
| Homozygous viable | no |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Non-specific syndromic intellectual disability / Orphanet_528084
Literature references
- The E3 ubiquitin ligase activity of RING1B is not essential for early mouse development.;Illingworth Robert S, Moffat Michael, Mann Abigail R, Read David, Hunter Chris J, Pradeepa Madapura M, Adams Ian R, Bickmore Wendy A, ;2015;Genes & development;29;1897-902; 26385961