C3.Cg-Ctnnb1Bfc/H

Status

Available to order

EMMA IDEM:00078
International strain nameC3.Cg-Ctnnb1Bfc/H
Alternative nameGENA123
Strain typeInduced Mutant Strains : Chemically-induced
Allele/Transgene symbolCtnnb1Bfc
Gene/Transgene symbolCtnnb1

Information from provider

ProviderPat Nolan
Provider affiliationMRC Mammalian Genetics Unit
Genetic informationDominant 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 informationShort 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
  • 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

Information from EMMA

Archiving centreMary Lyon Centre at MRC Harwell, Oxford, United Kingdom

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

IMPC phenotypes (allele matching)
  • increased bone mineral density / IMPC
  • abnormal head morphology / IMPC
  • abnormal cranium morphology / IMPC
  • abnormal startle reflex / IMPC
  • increased startle reflex / IMPC
  • abnormal bone mineralization / IMPC
IMPC phenotypes (gene matching)
  • abnormal bone mineralization / IMPC
  • increased startle reflex / IMPC
  • abnormal cranium morphology / IMPC
  • increased bone mineral density / IMPC
  • abnormal startle reflex / IMPC
  • abnormal head morphology / IMPC
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

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Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

  • Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740*
  • Rederivation of mice from frozen stock, delivery time available upon request . €3880*
  • Tissue - Types of tissue, service fee and delivery time available upon request

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

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