C3HeB/FeJ-Myo7a^Hdb/Ieg

Status	Available to order
EMMA ID	EM:01663
International strain name	C3HeB/FeJ-Myo7a^Hdb/Ieg
Alternative name	Headbanger
Strain type	Induced Mutant Strains : Chemically-induced
Allele/Transgene symbol	Myo7a^Hdb
Gene/Transgene symbol	Myo7a

Information from provider

Provider	Karen Steel
Provider affiliation	Wellcome Trust Sanger Institute
Additional owner	Originally detected by the ENU mutagenesis programme at the Helmholtz Zentrum Muenchen by Helmut Fuchs and Martin Hrabe de Angelis.
Genetic information	An A to T transversion at position 531 in exon 6 of Myo7a was identified and is predicted to cause an isoleucine-to-phenylalanine amino acid substitution at position 178.
Phenotypic information	Heterozygote headbanger (Hdb/+) mutants display classic behavior indicative of vestibular dysfunction including hyperactivity and head bobbing, have raised cochlear thresholds especially at low frequencies, and abnormal stereocilia bundle development from an early age. Homozygotes showed a similar but more severe phenotype.
Breeding history	Stock frozen as embryos: maintained in a closed colony of C3HeB/FeJ for over ten years but not always by sib matings.
References	Genome-wide, large-scale production of mutant mice by ENU mutagenesis.;Hrabé de Angelis M H, Flaswinkel H, Fuchs H, Rathkolb B, Soewarto D, Marschall S, Heffner S, Pargent W, Wuensch K, Jung M, Reis A, Richter T, Alessandrini F, Jakob T, Fuchs E, Kolb H, Kremmer E, Schaeble K, Rollinski B, Roscher A, Peters C, Meitinger T, Strom T, Steckler T, Holsboer F, Klopstock T, Gekeler F, Schindewolf C, Jung T, Avraham K, Behrendt H, Ring J, Zimmer A, Schughart K, Pfeffer K, Wolf E, Balling R, ;2000;Nature genetics;25;444-7; 10932192 Screening for dysmorphological abnormalities--a powerful tool to isolate new mouse mutants.;Fuchs H, Schughart K, Wolf E, Balling R, Hrabé de Angelis M, ;2000;Mammalian genome : official journal of the International Mammalian Genome Society;11;528-30; 10886017 A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairment.;Rhodes Charlotte R, Hertzano Ronna, Fuchs Helmut, Bell Rachel E, de Angelis Martin Hrabé, Steel Karen P, Avraham Karen B, ;2004;Mammalian genome : official journal of the International Mammalian Genome Society;15;686-97; 15389316 Mice with vestibular deficiency display hyperactivity, disorientation, and signs of anxiety.;Avni Reut, Elkan Tal, Dror Amiel A, Shefer Shachar, Eilam David, Avraham Karen B, Mintz Matti, ;2009;Behavioural brain research;202;210-7; 19463703 Progressive vestibular mutation leads to elevated anxiety.;Shefer Shahar, Gordon Carlos R, Avraham Karen B, Mintz Matti, ;2010;Brain research;1317;157-64; 20043895
Homozygous fertile	not known
Homozygous viable	yes
Homozygous matings required	no
Immunocompromised	no

Information from EMMA

Archiving centre	Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany

Disease and phenotype information

MGI allele-associated human disease models

Usher syndrome type 1 / DOID:0110826

Orphanet associated rare diseases, based on orthologous gene matching

Usher syndrome type 1 / Orphanet_231169
Autosomal recessive non-syndromic sensorineural deafness type DFNB / Orphanet_90636
Usher syndrome type 2 / Orphanet_231178
Autosomal dominant non-syndromic sensorineural deafness type DFNA / Orphanet_90635

IMPC phenotypes (allele matching)

decreased bone mineral density / IMPC
decreased body length / IMPC
decreased body weight / IMPC
increased thermal nociceptive threshold / IMPC
abnormal bone mineralization / IMPC
abnormal locomotor activation / IMPC
increased lean body mass / IMPC
decreased lean body mass / IMPC
abnormal behavior / IMPC
increased total body fat amount / IMPC
increased bone mineral content / IMPC

IMPC phenotypes (gene matching)

decreased lean body mass / IMPC
abnormal locomotor activation / IMPC
trunk curl / IMPC
persistence of hyaloid vascular system / IMPC
absent pinna reflex / IMPC
increased lean body mass / IMPC
impaired righting response / IMPC
increased blood urea nitrogen level / IMPC
increased total body fat amount / IMPC
decreased body weight / IMPC
increased thermal nociceptive threshold / IMPC
abnormal bone mineralization / IMPC
increased bone mineral content / IMPC
decreased body length / IMPC
abnormal behavior / IMPC
decreased bone mineral density / IMPC
increased circulating sodium level / IMPC
stereotypic behavior / IMPC

MGI phenotypes (allele matching)

hyperactivity / MGI
head bobbing / MGI
abnormal vestibular hair cell stereociliary bundle morphology / MGI
abnormal outer hair cell stereociliary bundle morphology / MGI
abnormal inner hair cell stereociliary bundle morphology / MGI
fused inner hair cell stereocilia / MGI
increased cochlear nerve compound action potential / MGI
decreased outer hair cell stereocilia number / MGI
decreased inner hair cell stereocilia number / MGI

MGI phenotypes (gene matching)

abnormal inner ear vestibule morphology / MGI
abnormal organ of Corti morphology / MGI
abnormal hair cell morphology / MGI
abnormal head movements / MGI
abnormal retinal rod cell morphology / MGI
pigmentation phenotype / MGI
decreased body size / MGI
increased anxiety-related response / MGI
circling / MGI
hyperactivity / MGI
abnormal gait / MGI
head bobbing / MGI
decreased startle reflex / MGI
trunk curl / MGI
impaired swimming / MGI
impaired balance / MGI
reduced male fertility / MGI
male infertility / MGI
abnormal hearing physiology / MGI
deafness / MGI
abnormal parental behavior / MGI
gliosis / MGI
abnormal cochlear hair cell morphology / MGI
head shaking / MGI
cochlear ganglion degeneration / MGI
no phenotypic analysis / MGI
straub tail / MGI
abnormal ear physiology / MGI
vestibular saccular macula degeneration / MGI
cochlear hair cell degeneration / MGI
stria vascularis degeneration / MGI
abnormal cochlear outer hair cell morphology / MGI
decreased cochlear outer hair cell number / MGI
cochlear outer hair cell degeneration / MGI
absent cochlear microphonics / MGI
abnormal cochlear nerve compound action potential / MGI
short cochlear outer hair cells / MGI
abnormal orientation of outer hair cell stereociliary bundles / MGI
abnormal orientation of inner hair cell stereociliary bundles / MGI
abnormal vestibular hair cell stereociliary bundle morphology / MGI
decreased vestibular hair cell stereocilia number / MGI
abnormal cochlear hair cell stereociliary bundle morphology / MGI
abnormal orientation of cochlear hair cell stereociliary bundles / MGI
short cochlear hair cell stereocilia / MGI
abnormal outer hair cell stereociliary bundle morphology / MGI
decreased outer hair cell stereocilia number / MGI
abnormal inner hair cell stereociliary bundle morphology / MGI
fused inner hair cell stereocilia / MGI
decreased inner hair cell stereocilia number / MGI
abnormal cochlear hair cell inter-stereocilial links morphology / MGI
absent cochlear hair bundle ankle links / MGI
abnormal cochlear basement membrane morphology / MGI
abnormal cochlear OHC efferent innervation pattern / MGI
absent distortion product otoacoustic emissions / MGI
increased susceptibility to age-related hearing loss / MGI
increased cochlear nerve compound action potential / MGI
absent linear vestibular evoked potential / MGI
abnormal behavior / MGI
head tilt / MGI
abnormal retinal pigment epithelium morphology / MGI
head tossing / MGI
hearing/vestibular/ear phenotype / MGI
jerky movement / MGI
impaired hearing / MGI
absent pinna reflex / MGI
absent startle reflex / MGI
abnormal auditory summating potential / MGI
vestibular ganglion hypoplasia / MGI
retinal rod cell degeneration / MGI
slow postnatal weight gain / MGI
retropulsion / MGI
increased food intake / MGI
increased fluid intake / MGI
increased or absent threshold for auditory brainstem response / MGI

Literature references

Genome-wide, large-scale production of mutant mice by ENU mutagenesis.;Hrabé de Angelis M H, Flaswinkel H, Fuchs H, Rathkolb B, Soewarto D, Marschall S, Heffner S, Pargent W, Wuensch K, Jung M, Reis A, Richter T, Alessandrini F, Jakob T, Fuchs E, Kolb H, Kremmer E, Schaeble K, Rollinski B, Roscher A, Peters C, Meitinger T, Strom T, Steckler T, Holsboer F, Klopstock T, Gekeler F, Schindewolf C, Jung T, Avraham K, Behrendt H, Ring J, Zimmer A, Schughart K, Pfeffer K, Wolf E, Balling R, ;2000;Nature genetics;25;444-7; 10932192
Screening for dysmorphological abnormalities--a powerful tool to isolate new mouse mutants.;Fuchs H, Schughart K, Wolf E, Balling R, Hrabé de Angelis M, ;2000;Mammalian genome : official journal of the International Mammalian Genome Society;11;528-30; 10886017
A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairment.;Rhodes Charlotte R, Hertzano Ronna, Fuchs Helmut, Bell Rachel E, de Angelis Martin Hrabé, Steel Karen P, Avraham Karen B, ;2004;Mammalian genome : official journal of the International Mammalian Genome Society;15;686-97; 15389316
Mice with vestibular deficiency display hyperactivity, disorientation, and signs of anxiety.;Avni Reut, Elkan Tal, Dror Amiel A, Shefer Shachar, Eilam David, Avraham Karen B, Mintz Matti, ;2009;Behavioural brain research;202;210-7; 19463703
Progressive vestibular mutation leads to elevated anxiety.;Shefer Shahar, Gordon Carlos R, Avraham Karen B, Mintz Matti, ;2010;Brain research;1317;157-64; 20043895

Information on how we integrate external resources can be found here

Order

Availabilities

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

Frozen sperm. 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).

More details on pricing and delivery times

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.

EMMA conditions
Legally binding conditions for the transfer

Other EMMA strains

Not found what you were looking for? Search here for other strains available from EMMA.

C3HeB/FeJ-Myo7aHdb/Ieg