IMPC phenotypes (allele matching)
CBACa;129P2-Ube3bGt(RRJ142)Byg/WtsiCnbc
| Status | Available to order |
| EMMA ID | EM:04922 |
| International strain name | CBACa;129P2-Ube3bGt(RRJ142)Byg/WtsiCnbc |
| Alternative name | Ube3b genetrap |
| Strain type | Gene-trap |
| Allele/Transgene symbol | Ube3bGt(RRJ142)Byg |
| Gene/Transgene symbol | Ube3b |
Information from provider
| Provider | Karen Steel |
| Provider affiliation | Wellcome Trust Sanger Institute |
| Genetic information | A genetrap from BayGenomics in the Ube3b gene. |
| Phenotypic information | Homozygotes have reduced viability and show reduced body weight, reduced lipid levels, hot plate and grip strength anomalies (see Wellcome Trust Sanger Institute phenotyping data on web). |
| Breeding history | Chimaeras from the 129P2 ES cells were mated with CBA/Ca and then the colony maintained by intercrossing. |
| References | None available |
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Oculocerebrofacial syndrome, Kaufman type / Orphanet_2707
IMPC phenotypes (gene matching)
- preweaning lethality, incomplete penetrance / IMPC
- abnormal embryo size / IMPC
- decreased body weight / IMPC
- decreased circulating HDL cholesterol level / IMPC
- increased cornea thickness / IMPC
- fused cornea and lens / IMPC
- abnormal lens morphology / IMPC
- preweaning lethality, complete penetrance / IMPC
- eye hemorrhage / IMPC
- abnormal facial morphology / IMPC
- abnormal cornea morphology / IMPC
- abnormal iris morphology / IMPC
- iris synechia / IMPC
- abnormal eye anterior chamber depth / IMPC
- decreased circulating cholesterol level / IMPC
- trunk curl / IMPC
- abnormal retina inner nuclear layer morphology / IMPC
- decreased circulating LDL cholesterol level / IMPC
MGI phenotypes (allele matching)
- decreased circulating LDL cholesterol level / MGI
- decreased brain size / MGI
- decreased body weight / MGI
- decreased body size / MGI
- eye inflammation / MGI
- reduced fertility / MGI
- nervous system phenotype / MGI
- lymphangiectasis / MGI
- decreased circulating cholesterol level / MGI
- hearing/vestibular/ear phenotype / MGI
- calcified retina / MGI
- impaired hearing / MGI
- small hippocampus / MGI
- decreased grip strength / MGI
- preweaning lethality, incomplete penetrance / MGI
- decreased dentate gyrus size / MGI
MGI phenotypes (gene matching)
- decreased circulating LDL cholesterol level / MGI
- decreased brain size / MGI
- decreased body weight / MGI
- decreased body size / MGI
- eye inflammation / MGI
- reduced fertility / MGI
- nervous system phenotype / MGI
- lymphangiectasis / MGI
- decreased circulating cholesterol level / MGI
- hearing/vestibular/ear phenotype / MGI
- calcified retina / MGI
- impaired hearing / MGI
- small hippocampus / MGI
- decreased grip strength / MGI
- preweaning lethality, incomplete penetrance / MGI
- decreased dentate gyrus size / MGI