C3HeB/FeJ-Chd7Flo/IegWtsiCnbc

Status

Available to order

EMMA IDEM:05017
International strain nameC3HeB/FeJ-Chd7Flo/IegWtsiCnbc
Alternative nameFlouncer
Strain typeInduced Mutant Strains : Chemically-induced
Allele/Transgene symbolChd7Flo,
Gene/Transgene symbolChd7

Information from provider

ProviderKaren Steel
Provider affiliationWellcome Trust Sanger Institute
Additional ownerHelmholtz Zentrum Muenchen carried out the mutagenesis and discovered the head-bobbing.
Genetic informationA mutation in the splice donor site resulted in the S1864X substitution. This mutation putatively results in a protein lacking only the most C-terminal NLS, SANT, and BRK domains.
Phenotypic informationFlouncer hets show dominant head-bobbing and circling behaviour due to truncations of the lateral semicircular canal of the inner ear. Heterozygous mutant mice show a range of defects with reduced penetrance, such as cleft palate, choanal atresia, septal defects of the heart, haemorrhages, prenatal death, vulva and clitoral defects and keratoconjunctivitis sicca. Homozygotes die in early development.
Breeding historyOriginated from ENU mutagenesis programme in Munich on a C3HeB/FeJ background and maintained on the same background within a closed colony or backcrossed to C3HeB/FeJ ever since.
References
  • 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
  • Characterization of a new mouse mutant, flouncer, with a balance defect and inner ear malformation.;Pau Henry, Hawker Kelvin, Fuchs Helmut, De Angelis Martin Hrabé, Steel Karen P, ;2004;Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology;25;707-13; 15353999
Homozygous fertileno
Homozygous viableno
Homozygous matings requiredno
Immunocompromisednot known

Information from EMMA

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

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

MGI phenotypes (allele matching)
  • dry eyes / MGI
  • postnatal lethality / MGI
  • abnormal external female genitalia morphology / MGI
  • clitoris hypoplasia / MGI
  • keratoconjunctivitis sicca / MGI
  • abnormal lateral semicircular canal morphology / MGI
  • abnormal stationary movement / MGI
  • circling / MGI
  • head bobbing / MGI
  • abnormal motor coordination/ balance / MGI
  • impaired swimming / MGI
  • impaired righting response / MGI
  • abnormal placing response / MGI
  • abnormal stapes footplate morphology / MGI
  • increased cochlear outer hair cell number / MGI
  • abnormal round window morphology / MGI
  • abnormal stapes morphology / MGI

Literature references

  • 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
  • Characterization of a new mouse mutant, flouncer, with a balance defect and inner ear malformation.;Pau Henry, Hawker Kelvin, Fuchs Helmut, De Angelis Martin Hrabé, Steel Karen P, ;2004;Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology;25;707-13; 15353999

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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*

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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Practical information

Genotyping protocol

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

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