- increased mean corpuscular hemoglobin concentration / IMPC
- abnormal retina morphology / IMPC
- hyperactivity / IMPC
- decreased mean corpuscular volume / IMPC
- cataract / IMPC
- decreased circulating creatinine level / IMPC
- preweaning lethality, complete penetrance / IMPC
- decreased blood urea nitrogen level / IMPC
B6;129-Rev3ltm1Crey/Cnbc
Status | Available to order |
EMMA ID | EM:10791 |
International strain name | B6;129-Rev3ltm1Crey/Cnbc |
Alternative name | B6-129-Rev3L(catlytic mutant) |
Strain type | Targeted Mutant Strains : Knock-in |
Allele/Transgene symbol | Rev3ltm1Crey |
Gene/Transgene symbol | Rev3l |
Information from provider
Provider | Claude-Agnes Reynaud |
Provider affiliation | INSERM U1151/CNRS UMR 8253, Institut Necker-Enfants Malades |
Genetic information | Knock-in mutations of the catalytic site of Rev3l DNA polymerase. |
Phenotypic information | Homozygous:No obvious phenotype.Heterozygous:No obvious phenotype |
References |
|
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 |
Animals used for archiving | homozygous C57BL/6;129 |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Moebius syndrome / Orphanet_570
IMPC phenotypes (gene matching)
MGI phenotypes (gene matching)
- incomplete somite formation / MGI
- abnormal somite shape / MGI
- decreased embryo size / MGI
- abnormal visceral yolk sac morphology / MGI
- embryonic growth arrest / MGI
- pericardial edema / MGI
- abnormal embryonic tissue morphology / MGI
- abnormal vitelline vasculature morphology / MGI
- abnormal craniofacial development / MGI
- embryonic growth retardation / MGI
- spontaneous chromosome breakage / MGI
- delayed embryo turning / MGI
- abnormal embryonic neuroepithelium morphology / MGI
- abnormal somatic hypermutation frequency / MGI
- immune system phenotype / MGI
- abnormal mesenchyme morphology / MGI
- embryonic lethality between implantation and somite formation, complete penetrance / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- neural tube degeneration / MGI
- increased cell death / MGI
- increased embryonic tissue cell apoptosis / MGI
Literature references
- A single aspartate mutation in the conserved catalytic site of Rev3L generates a hypomorphic phenotype in vivo and in vitro.;Fritzen Rémi, Delbos Frédéric, De Smet Annie, Palancade Benoît, Canman Christine E, Aoufouchi Said, Weill Jean-Claude, Reynaud Claude-Agnès, Storck Sébastien, ;2016;DNA repair;46;37-46; 27481099
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