C57BL/6N-A^tm1Brd Arpc3^{tm1a(EUCOMM)Wtsi} Kmt2d^m1Wtsi Tbx1^ttch Muc3^m1Wtsi/WtsiH[cc]

Status	Available to order
EMMA ID	EM:13792
International strain name	C57BL/6N-A^tm1Brd Arpc3^{tm1a(EUCOMM)Wtsi} Kmt2d^m1Wtsi Tbx1^ttch Muc3^m1Wtsi/WtsiH[cc]
Alternative name	Twitch, Tbx1-ttch
Strain type	Spontaneous
Allele/Transgene symbol	Muc3^m1Wtsi, Tbx1^ttch, Kmt2d^m1Wtsi, Arpc3^{tm1a(EUCOMM)Wtsi}
Gene/Transgene symbol	Muc3, Tbx1, Kmt2d, Arpc3

Information from provider

Provider	Karen Steel
Provider affiliation	King
Genetic information	This is a missense variant in Tbx1, g.16:18584128C>T, which results in an amino acid change of p.(Asp212Asn) (ENSMUST00000232335).
Phenotypic information	Homozygous: Mice homozygous for the twitch (ttch) allele exhibited circling and head bobbing behaviour and had no auditory response to any stimulus up to 95dB SPL, associated with a malformed inner ear. Heterozygous: No obvious defect
Breeding history	These mutants were maintained for several years by intercrossing within a closed colony on the same C57BL/6N background that the mutation arose on. The original colony that showed this spontaneous mutation carried a targeted mutation of Arpc3 (Arpc3^{tm1a(EUCOMM)Wtsi}) and this may still be present in the background. We also found two further spontaneous mutations that may still be present in the background of the cryopreserved mice: a 27bp in-frame deletion in the Kmt2d gene, g.15:98863687_98863713del mutation, resulting in a loss of 9 amino acids (ENSMUST00000023741, p.586-594del); and a missense mutation in the gene Muc13, g.16:33807881C^m1Wtsi or Muc3^sp). The Arpc3, Kmt2d and Muc3 mutations did not lead to any obvious phenotypes.
References	Identification and characterisation of spontaneous mutations causing deafness from a targeted knockout programme.;Lewis Morag A, Ingham Neil J, Chen Jing, Pearson Selina, Di Domenico Francesca, Rekhi Sohinder, Allen Rochelle, Drake Matthew, Willaert Annelore, Rook Victoria, Pass Johanna, Keane Thomas, Adams David J, Tucker Abigail S, White Jacqueline K, Steel Karen P, ;2022;BMC biology;20;67; 35296311
Homozygous fertile	not known
Homozygous viable	yes
Homozygous matings required	no
Immunocompromised	not known

Information from EMMA

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

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Kabuki syndrome / Orphanet_2322
22q11.2 deletion syndrome / Orphanet_567
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome / Orphanet_589856

IMPC phenotypes (allele matching)

preweaning lethality, complete penetrance / IMPC

IMPC phenotypes (gene matching)

abnormal placenta morphology / IMPC
persistence of hyaloid vascular system / IMPC
abnormal blood vessel morphology / IMPC
abnormal skin morphology / IMPC
edema / IMPC
hyperactivity / IMPC
decreased circulating chloride level / IMPC
preweaning lethality, complete penetrance / IMPC
microphthalmia / IMPC
preweaning lethality, complete penetrance / IMPC
decreased body length / IMPC
increased circulating alkaline phosphatase level / IMPC
embryonic growth retardation / IMPC
anophthalmia / IMPC
decreased erythrocyte cell number / IMPC
increased circulating amylase level / IMPC
abnormal pancreas morphology / IMPC
decreased circulating sodium level / IMPC
abnormal eye morphology / IMPC
decreased leukocyte cell number / IMPC
increased mean corpuscular hemoglobin / IMPC

MGI phenotypes (gene matching)

abnormal cell morphology / MGI
decreased body size / MGI
impaired wound healing / MGI
abnormal inner cell mass morphology / MGI
abnormal blastocyst morphology / MGI
embryonic lethality before implantation, complete penetrance / MGI
impaired fibroblast cell migration / MGI
abnormal fibroblast physiology / MGI
abnormal fibroblast chemotaxis / MGI
short maxilla / MGI
flattened snout / MGI
abnormal dentate gyrus morphology / MGI
decreased body weight / MGI
abnormal object recognition memory / MGI
abnormal inner ear canal morphology / MGI
abnormal hippocampus granule cell layer / MGI
impaired contextual conditioning behavior / MGI
embryonic lethality during organogenesis, complete penetrance / MGI
impaired spatial learning / MGI
small ears / MGI
abnormal ear shape / MGI
lowered ear position / MGI
abnormal inner ear morphology / MGI
abnormal malleus morphology / MGI
abnormal tympanic ring morphology / MGI
absent semicircular canals / MGI
abnormal lateral semicircular canal morphology / MGI
abnormal otic capsule morphology / MGI
abnormal middle ear morphology / MGI
short mandible / MGI
cleft palate / MGI
kyphosis / MGI
abnormal heart development / MGI
abnormal interventricular septum morphology / MGI
double outlet right ventricle / MGI
abnormal cranium morphology / MGI
kinked tail / MGI
absent parathyroid glands / MGI
abnormal thymus development / MGI
athymia / MGI
small thymus / MGI
abnormal myogenesis / MGI
abnormal cranial nerve morphology / MGI
abnormal trigeminal nerve morphology / MGI
abnormal mandibular nerve branching / MGI
abnormal facial nerve morphology / MGI
abnormal vestibulocochlear nerve morphology / MGI
abnormal glossopharyngeal nerve morphology / MGI
abnormal vagus nerve morphology / MGI
abnormal accessory nerve morphology / MGI
abnormal glossopharyngeal ganglion morphology / MGI
abnormal vagus ganglion morphology / MGI
abnormal blood vessel morphology / MGI
decreased embryo size / MGI
edema / MGI
skin edema / MGI
thymus hypoplasia / MGI
increased susceptibility to otitis media / MGI
abnormal lymphatic vessel morphology / MGI
respiratory failure / MGI
abnormal motor capabilities/coordination/movement / MGI
postnatal lethality / MGI
abnormal ear morphology / MGI
abnormal craniofacial bone morphology / MGI
abnormal cardiovascular system morphology / MGI
no abnormal phenotype detected / MGI
abnormal outer ear morphology / MGI
hydrops fetalis / MGI
abnormal pharyngeal muscle morphology / MGI
abnormal thyroid cartilage morphology / MGI
abnormal laryngeal muscle morphology / MGI
abnormal semicircular canal morphology / MGI
abnormal social/conspecific interaction / MGI
persistent truncus arteriosis / MGI
micrognathia / MGI
abnormal pharyngeal arch artery morphology / MGI
abnormal semilunar valve morphology / MGI
increased thigmotaxis / MGI
abnormal cochlear ganglion morphology / MGI
abnormal pharyngeal arch morphology / MGI
abnormal cardiovascular development / MGI
abnormal neural crest cell migration / MGI
abnormal cervical vertebrae morphology / MGI
curly tail / MGI
abnormal hyoid bone morphology / MGI
anotia / MGI
absent cochlea / MGI
absent lateral semicircular canal / MGI
abnormal artery development / MGI
abnormal response to novel object / MGI
ear lobe hypoplasia / MGI
abnormal vestibulocochlear ganglion morphology / MGI
abnormal facial morphology / MGI
abnormal palate morphology / MGI
vascular smooth muscle hypoplasia / MGI
absent pharyngeal arches / MGI
abnormal craniofacial development / MGI
lymphangiectasis / MGI
abnormal aortic arch morphology / MGI
interrupted aortic arch / MGI
right aortic arch / MGI
double aortic arch / MGI
retroesophageal right subclavian artery / MGI
cervical aortic arch / MGI
absent stapes / MGI
absent masseter muscle / MGI
absent pterygoid muscle / MGI
small otic vesicle / MGI
otic vesicle hypoplasia / MGI
absent inner ear vestibule / MGI
abnormal zygomatic arch morphology / MGI
pharynx hypoplasia / MGI
fusion of glossopharyngeal and vagus nerve / MGI
glossopharyngeal nerve hypoplasia / MGI
fusion of basioccipital and basisphenoid bone / MGI
abnormal vertebral arch morphology / MGI
abnormal cervical atlas morphology / MGI
abnormal cervical axis morphology / MGI
fusion of vertebral bodies / MGI
absent vertebral body / MGI
abnormal dorsal aorta morphology / MGI
absent upper incisors / MGI
absent mandibular coronoid process / MGI
absent ultimobranchial body / MGI
abnormal middle ear ossicle morphology / MGI
abnormal incus morphology / MGI
abnormal stapes morphology / MGI
abnormal temporal bone morphology / MGI
craniofacial phenotype / MGI
absent outer ear / MGI
abnormal vascular smooth muscle physiology / MGI
abnormal endolymphatic duct morphology / MGI
dilated endolymphatic duct / MGI
decreased tympanic ring size / MGI
abnormal pharyngeal pouch morphology / MGI
abnormal external auditory canal morphology / MGI
increased apoptosis / MGI
abnormal fetal atrioventricular canal morphology / MGI
abnormal cardiac outflow tract development / MGI
absent inner ear / MGI
inner ear hypoplasia / MGI
abnormal third pharyngeal arch morphology / MGI
abnormal fourth pharyngeal arch morphology / MGI
small second pharyngeal arch / MGI
absent second pharyngeal arch / MGI
small pharyngeal arch / MGI
abnormal sixth pharyngeal arch morphology / MGI
abnormal fourth pharyngeal arch artery morphology / MGI
abnormal spatial working memory / MGI
abnormal lymphangiogenesis / MGI
decreased prepulse inhibition / MGI
abnormal arcus anterior morphology / MGI
abnormal palatal shelf fusion at midline / MGI
palatal shelves fail to meet at midline / MGI
cleft secondary palate / MGI
abnormal neuron differentiation / MGI
malleus hypoplasia / MGI
thin malleus neck / MGI
ventricular septal defect / MGI
perimembraneous ventricular septal defect / MGI
abnormal truncus arteriosus septation / MGI
aberrant origin of the right subclavian artery / MGI
abnormal conotruncus morphology / MGI
abnormal conotruncus septation / MGI
absent third pharyngeal arch / MGI
absent arcus anterior / MGI
neonatal lethality, complete penetrance / MGI
neonatal lethality, incomplete penetrance / MGI
increased or absent threshold for auditory brainstem response / MGI
absent pharyngeal arch arteries / MGI
short neck / MGI
pharynx stenosis / MGI
fourth pharyngeal arch hypoplasia / MGI
decreased vocalization / MGI
absent facial muscle / MGI
abnormal upper incisor morphology / MGI
absent sixth pharyngeal arch artery / MGI
absent third pharyngeal arch artery / MGI
absent fourth pharyngeal arch artery / MGI
fourth pharyngeal arch artery hypoplasia / MGI
abnormal hypoglossal cord morphology / MGI
small thyroid cartilage / MGI
small cricoid cartilage / MGI

Literature references

Identification and characterisation of spontaneous mutations causing deafness from a targeted knockout programme.;Lewis Morag A, Ingham Neil J, Chen Jing, Pearson Selina, Di Domenico Francesca, Rekhi Sohinder, Allen Rochelle, Drake Matthew, Willaert Annelore, Rook Victoria, Pass Johanna, Keane Thomas, Adams David J, Tucker Abigail S, White Jacqueline K, Steel Karen P, ;2022;BMC biology;20;67; 35296311

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

Rederivation of mice from frozen stock, delivery time available upon request . €3880^*
Tissue - Types of tissue, service fee and delivery time available upon request

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C57BL/6N-Atm1Brd Arpc3tm1a(EUCOMM)Wtsi Kmt2dm1Wtsi Tbx1ttch Muc3m1Wtsi/WtsiH[cc]