STOCK Myo7a^4626SB/NihrH

Status	Available to order
EMMA ID	EM:00442
International strain name	STOCK Myo7a^4626SB/NihrH
Alternative name	Myo7a
Strain type	Induced Mutant Strains : Chemically-induced
Allele/Transgene symbol	Myo7a^4626SB
Gene/Transgene symbol	Myo7a

Information from provider

Provider	Karen Steel
Provider affiliation	Wellcome Trust Sanger Institute
Phenotypic information	Mice homozygous for this mutation exhibit almost constant circling behaviour and show no Preyer reflex. Heterozygotes and wild-types are indistinguishable.
References	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

Information from EMMA

Archiving centre	Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom

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 (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)

decreased cochlear outer hair cell number / MGI
abnormal cochlear nerve compound action potential / MGI
abnormal outer hair cell stereociliary bundle morphology / MGI
decreased outer hair cell stereocilia number / MGI
increased susceptibility to age-related hearing loss / MGI
impaired hearing / MGI
abnormal cochlear outer hair cell morphology / MGI
cochlear outer hair cell degeneration / MGI
short cochlear outer hair cells / MGI
abnormal orientation of cochlear hair cell stereociliary bundles / MGI
abnormal inner hair cell stereociliary bundle morphology / MGI
abnormal cochlear hair cell inter-stereocilial links morphology / MGI
absent cochlear hair bundle ankle links / MGI
abnormal cochlear hair cell stereociliary bundle morphology / MGI
fused inner hair cell stereocilia / 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

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

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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^*
Frozen sperm. 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.

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Practical information

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STOCK Myo7a4626SB/NihrH