IMPC phenotypes (gene matching)
B6J.Cg-Ctnnb1tm3.1Kba/Orl
| Status | Available to order |
| EMMA ID | EM:15956 |
| Citation information | RRID:IMSR_EM:15956 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | B6J.Cg-Ctnnb1tm3.1Kba/Orl |
| Alternative name | Ctnnb1tm3Kba |
| Strain type | Targeted Mutant Strains : Other targeted |
| Allele/Transgene symbol | Ctnnb1tm3.1Kba |
| Gene/Transgene symbol | Ctnnb1 |
Information from provider
| Provider | Konrad Basler |
| Provider affiliation | DMLS, University of Zurich |
| Genetic information | Mutation in endogenous locus of b-catenin (catenin beta 1, Ctnnb1). The expressed form of b-catenin is fully functional as a component of adherens junctions, can bind Tcf/Lef transcription factors, but lacks the ability to interact to N- and C-terminal transcriptional co-activators and thus does not transduce Wnt signaling. A point mutation was introduced into exon 4 resulting in a D164A mutation and a floxed hygromycin cassette was inserted via homologous recombination. In a second recombination event, a premature stop codon followed by a frameshift mutation was introduced at amino acid position 673 in exon 13 and this exon was fused to exon 15. The resistance cassette was removed by crossing the mutant allele with flp recombinase deleter strain (post-flp). |
| Phenotypic information | Homozygous:Homozygously lethal at gastrulation (before E 7.5).Heterozygous:10% of animals show kinky tail. |
| Breeding history | The ES cells were from 129 background. After removal of the resistance cassette the strain was crossed with C57BL/6J (in particular: B6JCrl1) for more than 15 generations. |
| References |
|
| Homozygous fertile | no |
| Homozygous viable | no |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNRS-TAAM – Typing and Archiving of Animal Models, Orléans, France |
| Animals used for archiving | heterozygous C57BL/6J males |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Craniopharyngioma / Orphanet_54595
- Desmoid tumor / Orphanet_873
- Pilomatrixoma / Orphanet_91414
- Familial exudative vitreoretinopathy / Orphanet_891
- Severe intellectual disability-progressive spastic diplegia syndrome / Orphanet_404473
MGI phenotypes (gene matching)
- growth retardation of molars / MGI
- increased leukocyte cell number / MGI
- increased granulocyte number / MGI
- broad head / MGI
- abnormal coat/ hair morphology / MGI
- absent hair follicles / MGI
- decreased hair follicle number / MGI
- alopecia / MGI
- abnormal head morphology / MGI
- microcephaly / MGI
- abnormal cranium morphology / MGI
- domed cranium / MGI
- flattened snout / MGI
- gastrointestinal hemorrhage / MGI
- abnormal small intestine morphology / MGI
- abnormal foot pad morphology / MGI
- kinked tail / MGI
- abnormal sweat gland morphology / MGI
- tremors / MGI
- abnormal tongue morphology / MGI
- decreased corpus callosum size / MGI
- forebrain hypoplasia / MGI
- small cerebellum / MGI
- decreased body size / MGI
- sparse vibrissae / MGI
- anophthalmia / MGI
- microphthalmia / MGI
- ocular hypertelorism / MGI
- cataract / MGI
- dry eyes / MGI
- impaired coordination / MGI
- reduced long term potentiation / MGI
- hunched posture / MGI
- abnormal coat appearance / MGI
- impaired balance / MGI
- abnormal vocalization / MGI
- abnormal germ layer development / MGI
- abnormal ectoderm development / MGI
- abnormal mesoderm development / MGI
- absent mesoderm / MGI
- abnormal gastrulation / MGI
- failure to gastrulate / MGI
- decreased embryo size / MGI
- abnormal proximal-distal axis patterning / MGI
- absent amniotic folds / MGI
- increased inflammatory response / MGI
- increased susceptibility to otitis media / MGI
- conjunctivitis / MGI
- decreased litter size / MGI
- deafness / MGI
- blindness / MGI
- abnormal hair growth / MGI
- premature death / MGI
- abnormal developmental patterning / MGI
- abnormal extraembryonic tissue morphology / MGI
- abnormal eye morphology / MGI
- no abnormal phenotype detected / MGI
- abnormal cervical lymph node morphology / MGI
- increased intestinal adenoma incidence / MGI
- abnormal macrophage physiology / MGI
- abnormal inner cell mass morphology / MGI
- small olfactory bulb / MGI
- abnormal operant conditioning behavior / MGI
- absent Peyer's patches / MGI
- increased intestinal adenocarcinoma incidence / MGI
- no phenotypic analysis / MGI
- absent allantois / MGI
- early eyelid opening / MGI
- abnormal forebrain development / MGI
- abnormal intestinal goblet cell morphology / MGI
- abnormal hair follicle development / MGI
- abnormal embryonic epiblast morphology / MGI
- increased hepatocyte apoptosis / MGI
- liver hemorrhage / MGI
- abnormal craniofacial development / MGI
- abnormal nitric oxide homeostasis / MGI
- embryonic growth retardation / MGI
- abnormal globus pallidus morphology / MGI
- absent maxilla / MGI
- abnormal nasal capsule morphology / MGI
- abnormal synaptic vesicle clustering / MGI
- short incisors / MGI
- increased susceptibility to parasitic infection / MGI
- lethargy / MGI
- abnormal rostral-caudal axis patterning / MGI
- increased brain size / MGI
- narrow eye opening / MGI
- abnormal corneal stroma morphology / MGI
- growth retardation of incisors / MGI
- abnormal corneal epithelium morphology / MGI
- absent Meibomian glands / MGI
- small pharyngeal arch / MGI
- small molars / MGI
- decreased Peyer's patch number / MGI
- small Peyer's patches / MGI
- abnormal spatial reference memory / MGI
- abnormal peripheral lymph node morphology / MGI
- absent peripheral lymph nodes / MGI
- facial cleft / MGI
- decreased prepulse inhibition / MGI
- impaired contextual conditioning behavior / MGI
- small brachial lymph nodes / MGI
- small axillary lymph nodes / MGI
- absent popliteal lymph nodes / MGI
- abnormal hippocampus neuron morphology / MGI
- abnormal vibrissa follicle morphology / MGI
- increased gastrointestinal tumor incidence / MGI
- abnormal mandibular prominence morphology / MGI
- abnormal maxillary prominence morphology / MGI
- perinatal lethality, complete penetrance / MGI
- prenatal lethality, complete penetrance / MGI
- embryonic lethality, complete penetrance / MGI
- embryonic lethality between implantation and somite formation, complete penetrance / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- preweaning lethality, complete penetrance / MGI
- prenatal lethality, incomplete penetrance / MGI
- preweaning lethality, incomplete penetrance / MGI
- increased hair follicle apoptosis / MGI
- abnormal head size / MGI
- increased striatum area / MGI
- Harderian gland atrophy / MGI
- keratoconjunctivitis sicca / MGI
- abnormal eyelid margin morphology / MGI
- enlarged thalamus / MGI
- abnormal anterior head development / MGI
- misaligned incisors / MGI
Literature references
- Probing transcription-specific outputs of β-catenin in vivo.;Valenta Tomas, Gay Max, Steiner Sarah, Draganova Kalina, Zemke Martina, Hoffmans Raymond, Cinelli Paolo, Aguet Michel, Sommer Lukas, Basler Konrad, ;2011;Genes & development;25;2631-43; 22190459