C3HeB/FeJ-Six1^Cwe/IegWtsiCnbc

Status	Available to order
EMMA ID	EM:05016
International strain name	C3HeB/FeJ-Six1^Cwe/IegWtsiCnbc
Alternative name	Catweasel
Strain type	Induced Mutant Strains : Chemically-induced
Allele/Transgene symbol	Six1^Cwe
Gene/Transgene symbol	Six1

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-bobing.
Genetic information	ENU mutagenesis induced an A to G transition at position 411 resulting in an amino acid substitution of glycine for glutamic acid at position 135 (E135G). This mutation in the homeobox is predicted to cause destabilisation of DNA binding.
Phenotypic information	Cwe/Cwe animals lack Preyer and righting reflexes, display severe headshaking and have severely truncated cochlea and semicircular canals. Cwe/Cwe animals had very few hair cells in the utricle, but their ampullae and cochlea were devoid of any hair cells. Heterozygotes show a mild head-bobbing behaviour.
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	Catweasel mice: a novel role for Six1 in sensory patch development and a model for branchio-oto-renal syndrome.;Bosman Erika A, Quint Elizabeth, Fuchs Helmut, Hrabé de Angelis Martin, Steel Karen P, ;2009;Developmental biology;328;285-96; 19389353
Homozygous fertile	not known
Homozygous viable	yes
Homozygous matings required	no
Immunocompromised	not known

Information from EMMA

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

Disease and phenotype information

MGI allele-associated human disease models

branchiootorenal syndrome / DOID:14702

Orphanet associated rare diseases, based on orthologous gene matching

Branchiootic syndrome / Orphanet_52429
Autosomal dominant non-syndromic sensorineural deafness type DFNA / Orphanet_90635
BOR syndrome / Orphanet_107

IMPC phenotypes (gene matching)

edema / IMPC
embryonic growth retardation / IMPC
decreased leukocyte cell number / IMPC
abnormal blood vessel morphology / IMPC
abnormal placenta morphology / IMPC
abnormal spleen morphology / IMPC
enlarged heart / IMPC
abnormal placenta vasculature / IMPC
decreased heart rate / IMPC
enlarged spleen / IMPC
abnormal craniofacial morphology / IMPC
small spleen / IMPC
abnormal uterus morphology / IMPC
preweaning lethality, complete penetrance / IMPC
abnormal kidney morphology / IMPC
abnormal heart morphology / IMPC
prolonged RR interval / IMPC
decreased prepulse inhibition / IMPC
small kidney / IMPC
enlarged kidney / IMPC
decreased circulating calcium level / IMPC
abnormal retina morphology / IMPC
abnormal skin morphology / IMPC

MGI phenotypes (allele matching)

abnormal inner ear vestibule morphology / MGI
head shaking / MGI
increased cochlear inner hair cell number / MGI
abnormal otic vesicle development / MGI
abnormal cochlea morphology / MGI
decreased body weight / MGI
decreased body size / MGI
circling / MGI
limb grasping / MGI
impaired righting response / MGI
abnormal inner ear canal morphology / MGI
absent lateral semicircular canal / MGI
renal hypoplasia / MGI
abnormal crista ampullaris morphology / MGI
small vestibular saccule / MGI
absent incus / MGI
small utricle / MGI
decreased cochlear inner hair cell number / MGI
abnormal common crus morphology / MGI
inner ear hypoplasia / MGI
absent pinna reflex / MGI

MGI phenotypes (gene matching)

abnormal inner ear morphology / MGI
abnormal malleus morphology / MGI
abnormal cochlea morphology / MGI
absent scala media / MGI
abnormal inner ear vestibule morphology / MGI
absent semicircular canals / MGI
abnormal middle ear morphology / MGI
short mandible / MGI
short maxilla / MGI
abnormal nasal bone morphology / MGI
abnormal frontal bone morphology / MGI
abnormal rib morphology / MGI
rib bifurcation / MGI
rib fusion / MGI
abnormal xiphoid process morphology / MGI
decreased cell proliferation / MGI
absent kidney / MGI
abnormal kidney development / MGI
athymia / MGI
abnormal myogenesis / MGI
muscle hypoplasia / MGI
abnormal skeletal muscle morphology / MGI
thin diaphragm muscle / MGI
abnormal facial nerve morphology / MGI
abnormal trigeminal ganglion morphology / MGI
decreased body weight / MGI
decreased body size / MGI
eyelids open at birth / MGI
circling / MGI
limb grasping / MGI
impaired righting response / MGI
apnea / MGI
abnormal craniofacial bone morphology / MGI
abnormal kidney morphology / MGI
abnormal nose morphology / MGI
abnormal external nares morphology / MGI
abnormal nasal cavity morphology / MGI
abnormal intercostal muscle morphology / MGI
abnormal semicircular canal morphology / MGI
micrognathia / MGI
abnormal inner ear canal morphology / MGI
head shaking / MGI
abnormal cardiovascular development / MGI
small kidney / MGI
short ureter / MGI
abnormal muscle precursor cell migration / MGI
short zygomatic bone / MGI
absent cochlea / MGI
decreased cochlear coiling / MGI
absent lateral semicircular canal / MGI
increased neuron apoptosis / MGI
abnormal hypaxial muscle morphology / MGI
renal hypoplasia / MGI
abnormal nervous system physiology / MGI
abnormal muscle fiber morphology / MGI
absent stapes / MGI
abnormal epaxial muscle morphology / MGI
abnormal crista ampullaris morphology / MGI
absent vestibulocochlear ganglion / MGI
absent inner ear vestibule / MGI
small vestibular saccule / MGI
absent incus / MGI
small utricle / MGI
increased cochlear inner hair cell number / MGI
decreased cochlear inner hair cell number / MGI
cervical vertebral fusion / MGI
abnormal thoracic cage morphology / MGI
absent stapedial artery / MGI
unilateral deafness / MGI
conductive hearing loss / MGI
decreased skeletal muscle mass / MGI
absent turbinates / MGI
abnormal common crus morphology / MGI
abnormal incus morphology / MGI
abnormal stapes morphology / MGI
bradykinesia / MGI
abnormal olfactory system morphology / MGI
abnormal Meckel's cartilage morphology / MGI
abnormal endolymphatic duct morphology / MGI
dilated endolymphatic duct / MGI
abnormal tympanic membrane morphology / MGI
abnormal otic vesicle development / MGI
increased apoptosis / MGI
abnormal vestibular saccule morphology / MGI
abnormal cardiac outflow tract development / MGI
absent inner ear / MGI
inner ear hypoplasia / MGI
small otic capsule / MGI
absent pinna reflex / MGI
abnormal styloid process morphology / MGI
decreased otic epithelial cell proliferation / MGI
short endolymphatic duct / MGI
abnormal sternocostal joint morphology / MGI
abnormal sternum ossification / MGI
small adenohypophysis / MGI
absent parotid gland / MGI
short temporal bone squamous part / MGI
abnormal olfactory epithelium morphology / MGI
decreased submandibular gland size / MGI
decreased tongue size / MGI
abnormal hyoid bone greater horn morphology / MGI
perinatal lethality, complete penetrance / MGI
absent metanephros / MGI
absent diaphragm / MGI
increased or absent threshold for auditory brainstem response / MGI
abnormal common carotid artery morphology / MGI
abnormal cranial neural crest cell morphology / MGI
epistaxis / MGI
abnormal submandibular gland physiology / MGI
abnormal lacrimal gland development / MGI
abnormal submandibular gland development / MGI
absent vomeronasal organ / MGI
absent olfactory epithelium / MGI
abnormal midface morphology / MGI
abnormal genioglossus muscle morphology / MGI
abnormal face development / MGI

Literature references

Catweasel mice: a novel role for Six1 in sensory patch development and a model for branchio-oto-renal syndrome.;Bosman Erika A, Quint Elizabeth, Fuchs Helmut, Hrabé de Angelis Martin, Steel Karen P, ;2009;Developmental biology;328;285-96; 19389353

Information on how we integrate external resources can be found here

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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).

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

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C3HeB/FeJ-Six1Cwe/IegWtsiCnbc