IMPC phenotypes (allele matching)
C3.Cg-Ctnnb1Bfc/H
| Status | Available to order |
| EMMA ID | EM:00078 |
| International strain name | C3.Cg-Ctnnb1Bfc/H |
| Alternative name | GENA123 |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Ctnnb1Bfc |
| Gene/Transgene symbol | Ctnnb1 |
Information from provider
| Provider | Pat Nolan |
| Provider affiliation | MRC Mammalian Genetics Unit |
| Genetic information | Dominant mutant, called Batface (GENA123), discovered by SHIRPA screening the F1 progeny of a BALB/c mutagenised male. ENU induced a C to A transversion that results in the amino acid substitution of lysine for threonine at position 653 (T653K). |
| Phenotypic information | Short broad head, dark pigmentation, abnormal gait and pelvic elevation. Mice heterozygous for this mutation have abnormal facial pigmentation, craniofacial abnormalities observed as broad head and skeletal abnormalities observed as an abnormal gait and elevated pelvis. |
| References |
|
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
- 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 (allele matching)
- broad head / MGI
- decreased corpus callosum size / MGI
- abnormal thalamus morphology / MGI
- small cerebellum / MGI
- ocular hypertelorism / MGI
- impaired coordination / MGI
- reduced long term potentiation / MGI
- abnormal vocalization / MGI
- small olfactory bulb / MGI
- abnormal operant conditioning behavior / MGI
- abnormal globus pallidus morphology / MGI
- abnormal synaptic vesicle clustering / MGI
- increased brain size / MGI
- abnormal spatial reference memory / MGI
- decreased prepulse inhibition / MGI
- impaired contextual conditioning behavior / MGI
- abnormal hippocampus neuron morphology / MGI
- increased striatum area / MGI
- abnormal head morphology / MGI
- flattened snout / MGI
- forebrain hypoplasia / MGI
- anophthalmia / MGI
- microphthalmia / MGI
- cataract / MGI
- abnormal eye morphology / MGI
- preweaning lethality, incomplete penetrance / MGI
- preweaning lethality, complete penetrance / MGI
- abnormal head size / MGI
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
- A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse.;Nolan P M, Peters J, Strivens M, Rogers D, Hagan J, Spurr N, Gray I C, Vizor L, Brooker D, Whitehill E, Washbourne R, Hough T, Greenaway S, Hewitt M, Liu X, McCormack S, Pickford K, Selley R, Wells C, Tymowska-Lalanne Z, Roby P, Glenister P, Thornton C, Thaung C, Stevenson J A, Arkell R, Mburu P, Hardisty R, Kiernan A, Erven A, Steel K P, Voegeling S, Guenet J L, Nickols C, Sadri R, Nasse M, Isaacs A, Davies K, Browne M, Fisher E M, Martin J, Rastan S, Brown S D, Hunter J, ;2000;Nature genetics;25;440-3; 10932191