C3HeB/FeJ-Chd7Whi/IegWtsiCnbc

Status

Available to order

EMMA IDEM:04923
International strain nameC3HeB/FeJ-Chd7Whi/IegWtsiCnbc
Alternative nameWhirligig, Chd7
Strain typeInduced Mutant Strains : Chemically-induced
Allele/Transgene symbolChd7Whi,
Gene/Transgene symbolChd7

Information from provider

ProviderKaren Steel
Provider affiliationWellcome Trust Sanger Institute
Additional ownerProf. M. Hrabé de Angelis, Helmholtz Zentrum München, Neuherberg, Germany
Genetic informationENU-induced mutation at proximal chromosome 4.
Phenotypic informationCircling, head-bobbing and hyperactive mutant, maps to proximal chromosome 4. Phenotype indistinguishable from Chd7 mutations.
Breeding historyOriginated from ENU mutagenesis programme in Munich, Helmholtz Centrum, on a C3HeB/FeJ background and bred on the same background within a closed colony or backcrossed to C3HeB/FeJ ever since.
References
  • Two new mouse mutants with vestibular defects that map to the highly mutable locus on chromosome 4.;Hawker Kelvin, Fuchs Helmut, Angelis Martin Hrabéde, Steel Karen P, ;2005;International journal of audiology;44;171-7; 15916118
  • Multiple mutations in mouse Chd7 provide models for CHARGE syndrome.;Bosman Erika A, Penn Andrew C, Ambrose John C, Kettleborough Ross, Stemple Derek L, Steel Karen P, ;2005;Human molecular genetics;14;3463-76; 16207732
  • Study of smell and reproductive organs in a mouse model for CHARGE syndrome.;Bergman Jorieke E H, Bosman Erika A, van Ravenswaaij-Arts Conny M A, Steel Karen P, ;2010;European journal of human genetics : EJHG;18;171-7; 19809474
  • Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice.;Randall Victoria, McCue Karen, Roberts Catherine, Kyriakopoulou Vanessa, Beddow Sarah, Barrett Angela N, Vitelli Francesca, Prescott Katrina, Shaw-Smith Charles, Devriendt Koen, Bosman Erika, Steffes Georg, Steel Karen P, Simrick Subreena, Basson M Albert, Illingworth Elizabeth, Scambler Peter J, ;2009;The Journal of clinical investigation;119;3301-10; 19855134
Homozygous fertileno
Homozygous viableno
Homozygous matings requiredno
Immunocompromisedno

Information from EMMA

Archiving centreCNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain

Disease and phenotype information

MGI allele-associated human disease models

Orphanet associated rare diseases, based on orthologous gene matching

IMPC phenotypes (allele matching)
  • decreased circulating HDL cholesterol level / IMPC
  • decreased body length / IMPC
  • decreased body weight / IMPC
  • hyperactivity / IMPC
  • decreased circulating alanine transaminase level / IMPC
  • decreased lean body mass / IMPC
  • decreased lumbar vertebrae number / IMPC
  • abnormal behavior / IMPC
  • decreased circulating cholesterol level / IMPC
  • decreased circulating serum albumin level / IMPC
  • decreased circulating total protein level / IMPC
  • decreased circulating aspartate transaminase level / IMPC
  • decreased circulating fructosamine level / IMPC
MGI phenotypes (allele matching)
  • circling / MGI
  • hyperactivity / MGI
  • head bobbing / MGI
  • abnormal superior semicircular canal morphology / MGI
  • absent lateral semicircular canal / MGI
  • decreased lateral semicircular canal size / MGI
  • increased cochlear inner hair cell number / MGI
  • increased cochlear outer hair cell number / MGI
  • abnormal round window morphology / MGI
  • abnormal stapes morphology / MGI
  • hearing/vestibular/ear phenotype / MGI
  • decreased body weight / MGI
  • dry eyes / MGI
  • edema / MGI
  • hemorrhage / MGI
  • postnatal lethality / MGI
  • abnormal outer ear morphology / MGI
  • abnormal internal nares morphology / MGI
  • head shaking / MGI
  • abnormal external female genitalia morphology / MGI
  • abnormal digit development / MGI
  • clitoris hypoplasia / MGI
  • abnormal secondary palate development / MGI
  • cleft secondary palate / MGI
  • decreased total body fat amount / MGI
  • ventricular septal defect / MGI
  • keratoconjunctivitis sicca / MGI
  • decreased palatal rugae number / MGI

Literature references

  • Two new mouse mutants with vestibular defects that map to the highly mutable locus on chromosome 4.;Hawker Kelvin, Fuchs Helmut, Angelis Martin Hrabéde, Steel Karen P, ;2005;International journal of audiology;44;171-7; 15916118
  • Multiple mutations in mouse Chd7 provide models for CHARGE syndrome.;Bosman Erika A, Penn Andrew C, Ambrose John C, Kettleborough Ross, Stemple Derek L, Steel Karen P, ;2005;Human molecular genetics;14;3463-76; 16207732
  • Study of smell and reproductive organs in a mouse model for CHARGE syndrome.;Bergman Jorieke E H, Bosman Erika A, van Ravenswaaij-Arts Conny M A, Steel Karen P, ;2010;European journal of human genetics : EJHG;18;171-7; 19809474
  • Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice.;Randall Victoria, McCue Karen, Roberts Catherine, Kyriakopoulou Vanessa, Beddow Sarah, Barrett Angela N, Vitelli Francesca, Prescott Katrina, Shaw-Smith Charles, Devriendt Koen, Bosman Erika, Steffes Georg, Steel Karen P, Simrick Subreena, Basson M Albert, Illingworth Elizabeth, Scambler Peter J, ;2009;The Journal of clinical investigation;119;3301-10; 19855134

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Practical information

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