C3HeB/FeJ-Myo6^Mhdatlc/IegWtsiCnbc

Status	Available to order
EMMA ID	EM:05018
Citation information	RRID:IMSR_EM:05018 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information.
International strain name	C3HeB/FeJ-Myo6^Mhdatlc/IegWtsiCnbc
Alternative name	Tailchaser
Strain type	Induced Mutant Strains : Chemically-induced
Allele/Transgene symbol	Myo6^Mhdatlc
Gene/Transgene symbol	Myo6

Information from provider

Provider	Karen Steel
Provider affiliation	Wellcome Trust Sanger Institute
Additional owner	Helmholtz Zentrum Muenchen carried out the mutagenesis and discovered the head-bobbing.
Genetic information	Sequencing of cDNA extracted and amplified from heterozygous brains revealed a c.G694T transversion in a region that corresponds to exon 6 of the gene. This mutation is predicted to result in an aspartic acid to tyrosine amino acid substitution at the highly conserved position 179 of the encoded protein.
Phenotypic information	Tlc/+ mutants display classic behavioural symptoms of a vestibular dysfunction, including head-shaking and circling. Behavioural testing of ageing mice revealed a gradual deterioration of both hearing and balance function, associated with hair bundle defects of sensory hair cells. Homozygotes are more severely affected.
Breeding history	Originated 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	Tailchaser (Tlc): a new mouse mutation affecting hair bundle differentiation and hair cell survival.;Kiernan A E, Zalzman M, Fuchs H, Hrabe de Angelis M, Balling R, Steel K P, Avraham K B, ;1999;Journal of neurocytology;28;969-85; 10900098 A Myo6 mutation destroys coordination between the myosin heads, revealing new functions of myosin VI in the stereocilia of mammalian inner ear hair cells.;Hertzano Ronna, Shalit Ella, Rzadzinska Agnieszka K, Dror Amiel A, Song Lin, Ron Uri, Tan Joshua T, Shitrit Alina Starovolsky, Fuchs Helmut, Hasson Tama, Ben-Tal Nir, Sweeney H Lee, de Angelis Martin Hrabe, Steel Karen P, Avraham Karen B, ;2008;PLoS genetics;4;e1000207; 18833301
Homozygous fertile	no
Homozygous viable	no
Homozygous matings required	no
Immunocompromised	not known

Information from EMMA

Archiving centre	CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Autosomal recessive non-syndromic sensorineural deafness type DFNB / Orphanet_90636
Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome / Orphanet_228012
Autosomal dominant non-syndromic sensorineural deafness type DFNA / Orphanet_90635

IMPC phenotypes (gene matching)

abnormal sternum morphology / IMPC
abnormal behavior / IMPC
head bobbing / IMPC
hyperactivity / IMPC
decreased bone mineral density / IMPC
decreased startle reflex / IMPC
decreased circulating amylase level / IMPC
abnormal auditory brainstem response / IMPC
prolonged RR interval / IMPC
decreased body temperature / IMPC
necrosis / IMPC
decreased heart rate / IMPC
spermatogenesis defect / IMPC
decreased body length / IMPC
increased mean corpuscular volume / IMPC
abnormal uterus morphology / IMPC
decreased total body fat amount / IMPC
tremors / IMPC
increased circulating alkaline phosphatase level / IMPC
decreased prepulse inhibition / IMPC
hyalinosis / IMPC
decreased bone mineral content / IMPC
germ cell defect / IMPC
abnormal startle reflex / IMPC
decreased circulating potassium level / IMPC
enlarged urinary bladder / IMPC
decreased grip strength / IMPC
increased lean body mass / IMPC
decreased circulating glucose level / IMPC
decreased circulating triglyceride level / IMPC
decreased anxiety-related response / IMPC
abnormal stomach morphology / IMPC
increased vertical activity / IMPC
developmental dysplasia / IMPC
abnormal gait / IMPC
increased circulating phosphate level / IMPC
increased heart weight / IMPC
decreased leukocyte cell number / IMPC

MGI phenotypes (allele matching)

circling / MGI
impaired balance / MGI
abnormal placing response / MGI
vestibular hair cell degeneration / MGI
cochlear hair cell degeneration / MGI
cochlear inner hair cell degeneration / MGI
cochlear outer hair cell degeneration / MGI
abnormal cochlear hair cell stereociliary bundle morphology / MGI
abnormal cochlear hair cell development / MGI
head tossing / MGI
absent pinna reflex / MGI
retropulsion / MGI

MGI phenotypes (gene matching)

cochlear degeneration / MGI
abnormal inner ear vestibule morphology / MGI
organ of Corti degeneration / MGI
absent organ of Corti / MGI
decreased body size / MGI
circling / MGI
bidirectional circling / MGI
hyperactivity / MGI
stereotypic behavior / MGI
head bobbing / MGI
decreased startle reflex / MGI
impaired swimming / MGI
impaired balance / MGI
abnormal placing response / MGI
reduced fertility / MGI
abnormal reflex / MGI
deafness / MGI
head shaking / MGI
increased heart weight / MGI
cochlear ganglion degeneration / MGI
abnormal otolithic membrane morphology / MGI
detached tectorial membrane / MGI
abnormal cochlear sensory epithelium morphology / MGI
vestibular ganglion degeneration / MGI
vestibular hair cell degeneration / MGI
decreased vestibular hair cell number / MGI
vestibular saccular macula degeneration / MGI
utricular macular degeneration / MGI
cochlear hair cell degeneration / MGI
stria vascularis degeneration / MGI
cochlear inner hair cell degeneration / MGI
cochlear outer hair cell degeneration / MGI
abnormal crista ampullaris neuroepithelium morphology / MGI
absent cochlear nerve compound action potential / 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
fused vestibular hair cell stereocilia / MGI
abnormal cochlear hair cell stereociliary bundle morphology / MGI
decreased cochlear hair cell stereocilia number / MGI
fused outer hair cell stereocilia / 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 development / MGI
abnormal vestibular system physiology / MGI
absent linear vestibular evoked potential / MGI
reduced linear vestibular evoked potential / MGI
head tilt / MGI
head tossing / MGI
cardiomyopathy / MGI
vision/eye phenotype / MGI
abnormal eye electrophysiology / MGI
impaired hearing / MGI
absent pinna reflex / MGI
retropulsion / MGI
abnormal outer hair cell kinocilium morphology / MGI
increased or absent threshold for auditory brainstem response / MGI

Literature references

Tailchaser (Tlc): a new mouse mutation affecting hair bundle differentiation and hair cell survival.;Kiernan A E, Zalzman M, Fuchs H, Hrabe de Angelis M, Balling R, Steel K P, Avraham K B, ;1999;Journal of neurocytology;28;969-85; 10900098
A Myo6 mutation destroys coordination between the myosin heads, revealing new functions of myosin VI in the stereocilia of mammalian inner ear hair cells.;Hertzano Ronna, Shalit Ella, Rzadzinska Agnieszka K, Dror Amiel A, Song Lin, Ron Uri, Tan Joshua T, Shitrit Alina Starovolsky, Fuchs Helmut, Hasson Tama, Ben-Tal Nir, Sweeney H Lee, de Angelis Martin Hrabe, Steel Karen P, Avraham Karen B, ;2008;PLoS genetics;4;e1000207; 18833301

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C3HeB/FeJ-Myo6Mhdatlc/IegWtsiCnbc