129S6.129P2(Cg)-Fgfr3^tm1.1Aomw/AomwH

Status	Available to order
EMMA ID	EM:02541
International strain name	129S6.129P2(Cg)-Fgfr3^tm1.1Aomw/AomwH
Alternative name	129/SvEv-Fgfr3 P244R
Strain type	Targeted Mutant Strains : Knock-in
Allele/Transgene symbol	Fgfr3^tm1.1Aomw
Gene/Transgene symbol	Fgfr3

Information from provider

Provider	Steve Twigg
Provider affiliation	Weatherall Institute of Molecular Medicine, John Radcliffe Hospital
Genetic information	Fgfr3 731C>G knock-in (Pro244Arg)
Phenotypic information	Hearing loss with sparing at high frequencies. Incompletely penetrant skull abnormalities.
Breeding history	Backcrossed over 10 generations onto 129S6/SvEv.
References	Skeletal analysis of the Fgfr3(P244R) mouse, a genetic model for the Muenke craniosynostosis syndrome.;Twigg Stephen R F, Healy Chris, Babbs Christian, Sharpe Jacqueline A, Wood William G, Sharpe Paul T, Morriss-Kay Gillian M, Wilkie Andrew O M, ;2009;Developmental dynamics : an official publication of the American Association of Anatomists;238;331-42; 19086028 Hearing loss in a mouse model of Muenke syndrome.;Mansour Suzanne L, Twigg Stephen R F, Freeland Rowena M, Wall Steven A, Li Chaoying, Wilkie Andrew O M, ;2009;Human molecular genetics;18;43-50; 18818193
Homozygous fertile	yes
Homozygous viable	yes
Homozygous matings required	no
Immunocompromised	no

Information from EMMA

Archiving centre	Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom
Animals used for archiving	heterozygous 0
Breeding at archiving centre	Males were archived by sperm freezing on arrival. No breeding was performed at the archiving centre.

Disease and phenotype information

MGI allele-associated human disease models

Muenke Syndrome / DOID:0060703

Orphanet associated rare diseases, based on orthologous gene matching

Camptodactyly-tall stature-scoliosis-hearing loss syndrome / Orphanet_85164
Hypochondroplasia / Orphanet_429
Achondroplasia / Orphanet_15
Crouzon syndrome-acanthosis nigricans syndrome / Orphanet_93262
Thanatophoric dysplasia type 2 / Orphanet_93274
Muenke syndrome / Orphanet_53271
Isolated brachycephaly / Orphanet_35099
Lacrimoauriculodentodigital syndrome / Orphanet_2363
Thanatophoric dysplasia type 1 / Orphanet_1860
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome / Orphanet_85165
Isolated plagiocephaly / Orphanet_35098

MGI phenotypes (allele matching)

abnormal craniofacial morphology / MGI
craniofacial phenotype / MGI
impaired hearing / MGI
increased or absent threshold for auditory brainstem response / MGI
abnormal neurocranium morphology / MGI
malocclusion / MGI
abnormal cranium morphology / MGI
abnormal snout morphology / MGI
short snout / MGI
synostosis / MGI
abnormal premaxilla morphology / MGI
abnormal cranial suture morphology / MGI
abnormal coronal suture morphology / MGI
abnormal lambdoid suture morphology / MGI
enlarged interparietal bone / MGI
abnormal occipital bone morphology / MGI
decreased cranium height / MGI
abnormal foramen magnum morphology / MGI
thin frontal bone / MGI
thin parietal bone / MGI
abnormal organ of Corti morphology / MGI
delayed bone ossification / MGI
decreased bone mineral density / MGI
decreased compact bone thickness / MGI
domed cranium / MGI
decreased body size / MGI
abnormal pillar cell morphology / MGI
abnormal sagittal suture morphology / MGI
abnormal Deiters cell morphology / MGI
small interparietal bone / MGI
abnormal cochlear outer hair cell morphology / MGI
small occipital bone / MGI
abnormal palatine bone horizontal plate morphology / MGI
abnormal zygomatic bone morphology / MGI
abnormal patterning of the organ of Corti / MGI
abnormal organ of Corti supporting cell differentiation / MGI
abnormal maxillary zygomatic process morphology / MGI
increased cranium width / MGI
ocular hypertelorism / MGI
short nasal bone / MGI
maxillary retrognathia / MGI

MGI phenotypes (gene matching)

abnormal malleus morphology / MGI
abnormal cochlea morphology / MGI
abnormal organ of Corti morphology / MGI
delayed bone ossification / MGI
decreased bone mineral density / MGI
kyphoscoliosis / MGI
abnormal neurocranium morphology / MGI
abnormal parietal bone morphology / MGI
malocclusion / MGI
abnormal trabecular bone morphology / MGI
abnormal long bone metaphysis morphology / MGI
decreased compact bone thickness / MGI
abnormal vertebrae morphology / MGI
abnormal rib morphology / MGI
kyphosis / MGI
scoliosis / MGI
abnormal long bone hypertrophic chondrocyte zone / MGI
abnormal chondrocyte morphology / MGI
decreased chondrocyte number / MGI
abnormal craniofacial morphology / MGI
megacephaly / MGI
abnormal cranium morphology / MGI
domed cranium / MGI
increased cranium width / MGI
abnormal snout morphology / MGI
short snout / MGI
abnormal maxilla morphology / MGI
short limbs / MGI
long limbs / MGI
abnormal tibia morphology / MGI
abnormal femur morphology / MGI
synostosis / MGI
kinked tail / MGI
short tail / MGI
decreased body length / MGI
decreased body weight / MGI
decreased body size / MGI
ocular hypertelorism / MGI
abnormal gait / MGI
abnormal osteoclast physiology / MGI
reduced female fertility / MGI
male infertility / MGI
abnormal breathing pattern / MGI
respiratory distress / MGI
deafness / MGI
premature death / MGI
abnormal postnatal growth/weight/body size / MGI
abnormal tail morphology / MGI
abnormal axial skeleton morphology / MGI
no abnormal phenotype detected / MGI
abnormal fibula morphology / MGI
disproportionate dwarf / MGI
abnormal cochlear hair cell morphology / MGI
long tail / MGI
short tibia / MGI
abnormal premaxilla morphology / MGI
abnormal cranial suture morphology / MGI
no phenotypic analysis / MGI
abnormal thoracic vertebrae morphology / MGI
abnormal cervical vertebrae morphology / MGI
abnormal long bone epiphyseal plate morphology / MGI
short femur / MGI
absent tunnel of Corti / MGI
abnormal pillar cell differentiation / MGI
abnormal cochlear sensory epithelium morphology / MGI
increased width of hypertrophic chondrocyte zone / MGI
decreased width of hypertrophic chondrocyte zone / MGI
premature endochondral bone ossification / MGI
delayed endochondral bone ossification / MGI
nervous system phenotype / MGI
abnormal long bone epiphyseal plate proliferative zone / MGI
abnormal long bone morphology / MGI
abnormal bone structure / MGI
abnormal pillar cell morphology / MGI
abnormal coronal suture morphology / MGI
abnormal lambdoid suture morphology / MGI
abnormal sagittal suture morphology / MGI
abnormal synchondrosis / MGI
abnormal spine curvature / MGI
abnormal long bone diaphysis morphology / MGI
abnormal Deiters cell morphology / MGI
absent pillar cells / MGI
long femur / MGI
long humerus / MGI
short humerus / MGI
long tibia / MGI
bowed tibia / MGI
short ulna / MGI
bowed ulna / MGI
long ulna / MGI
bowed femur / MGI
bowed fibula / MGI
bowed humerus / MGI
bowed radius / MGI
short frontal bone / MGI
small interparietal bone / MGI
enlarged interparietal bone / MGI
abnormal cochlear outer hair cell morphology / MGI
increased cochlear outer hair cell number / MGI
small occipital bone / MGI
short nasal bone / MGI
abnormal palatine bone horizontal plate morphology / MGI
small vertebrae / MGI
vertebral compression / MGI
abnormal cochlear OHC efferent innervation pattern / MGI
small caudal vertebrae / MGI
enlarged vertebral body / MGI
short ribs / MGI
decreased length of long bones / MGI
short vertebral column / MGI
elongated vertebral body / MGI
short vertebral body / MGI
short lumbar vertebrae / MGI
small thoracic cavity / MGI
sensorineural hearing loss / MGI
long incisors / MGI
increased Deiters cell number / MGI
abnormal behavior / MGI
increased osteoclast cell number / MGI
abnormal osteoblast physiology / MGI
abnormal middle ear ossicle morphology / MGI
abnormal incus morphology / MGI
abnormal stapes morphology / MGI
abnormal ulna morphology / MGI
abnormal occipital bone morphology / MGI
abnormal zygomatic bone morphology / MGI
abnormal temporal bone morphology / MGI
abnormal humerus morphology / MGI
craniofacial phenotype / MGI
skeleton phenotype / MGI
abnormal skeleton morphology / MGI
impaired lung alveolus development / MGI
impaired hearing / MGI
abnormal patterning of the organ of Corti / MGI
abnormal vertebral epiphyseal plate morphology / MGI
abnormal epiphyseal plate morphology / MGI
decreased long bone epiphyseal plate size / MGI
disorganized long bone epiphyseal plate / MGI
increased long bone epiphyseal plate size / MGI
abnormal hyaline cartilage morphology / MGI
abnormal costal cartilage morphology / MGI
increased diameter of long bones / MGI
increased diameter of femur / MGI
abnormal bone ossification / MGI
abnormal endochondral bone ossification / MGI
abnormal intramembranous bone ossification / MGI
abnormal sternum ossification / MGI
failure of sternum ossification / MGI
abnormal organ of Corti supporting cell differentiation / MGI
decreased cranium height / MGI
long radius / MGI
absent gastric milk in neonates / MGI
abnormal chondrocyte physiology / MGI
increased hyoid bone size / MGI
abnormal thoracic cage shape / MGI
small thoracic cage / MGI
prognathia / MGI
mortality/aging / MGI
abnormal foramen magnum morphology / MGI
lethality at weaning, complete penetrance / MGI
lethality at weaning, incomplete penetrance / MGI
postnatal lethality, incomplete penetrance / MGI
neonatal lethality, complete penetrance / MGI
perinatal lethality, complete penetrance / MGI
prenatal lethality, complete penetrance / MGI
abnormal head size / MGI
increased fibroblast proliferation / MGI
enhanced osteoblast differentiation / MGI
increased or absent threshold for auditory brainstem response / MGI
midface hypoplasia / MGI
wide sternum / MGI
abnormal tail position or orientation / MGI
wavy tail / MGI
abnormal chondrocyte proliferation / MGI
increased chondrocyte proliferation / MGI
decreased chondrocyte proliferation / MGI
abnormal chondrocyte differentiation / MGI
increased bone ossification / MGI
foramen magnum stenosis / MGI
small snout / MGI
round head / MGI
maxillary retrognathia / MGI
thin frontal bone / MGI
thin parietal bone / MGI
abnormal maxillary zygomatic process morphology / MGI
small presphenoid bone / MGI
short basicranium / MGI
premature cranial synchondrosis closure / MGI
misaligned incisors / MGI
large femur head / MGI

Literature references

Skeletal analysis of the Fgfr3(P244R) mouse, a genetic model for the Muenke craniosynostosis syndrome.;Twigg Stephen R F, Healy Chris, Babbs Christian, Sharpe Jacqueline A, Wood William G, Sharpe Paul T, Morriss-Kay Gillian M, Wilkie Andrew O M, ;2009;Developmental dynamics : an official publication of the American Association of Anatomists;238;331-42; 19086028
Hearing loss in a mouse model of Muenke syndrome.;Mansour Suzanne L, Twigg Stephen R F, Freeland Rowena M, Wall Steven A, Li Chaoying, Wilkie Andrew O M, ;2009;Human molecular genetics;18;43-50; 18818193

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 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.

^* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

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Practical information

Example health report
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Material Transfer Agreement (MTA)
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Legally binding conditions for the transfer

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129S6.129P2(Cg)-Fgfr3tm1.1Aomw/AomwH