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Fgfr2tm1Ewj
Targeted Allele Detail
Summary
Symbol: Fgfr2tm1Ewj
Name: fibroblast growth factor receptor 2; targeted mutation 1, Ethylin Wang Jabs
MGI ID: MGI:3603464
Synonyms: Fgfr2NeoS252W, Fgfr2S252Wflox
Gene: Fgfr2  Location: Chr7:129764181-129868538 bp, - strand  Genetic Position: Chr7, 73.19 cM
Alliance: Fgfr2tm1Ewj page
Skull analysis of Fgfr2tm2Ewj/Fgfr2+ Tg(EIIa-cre)C5379Lmgd/0 and Fgfr2tm1Ewj/Fgfr2+ Tg(EIIa-cre)C5379Lmgd/0 mice

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:101174
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Hypomorph, Modified isoform(s))
Mutations:    Insertion, Nucleotide substitutions
 
Mutation details: A targeting vector containing a 755-756 CA to GG substitution resulted in a Ser252Trp mutation in exon IIIa. A floxed neo was inserted into intron IIIa (exon 7). This allele was a hypomorph and either was not expressed or expressed in reduced levels. Expression of alternative transcripts IIIb and IIIc were reduced by 16% to 41% compared to normal transcripts in multiple tissues tested. (J:101174)
Phenotypes
Key:
hm homozygous ht heterozygous tg involves transgenes √ phenotype observed
cn conditional genotype  cx complex: > 1 genome feature ot other: hemizygous, indeterminate,... N normal phenotype
Genotype/
Background:
Allelic Composition
Genetic Background
Cell Line(s)
cn1
Fgfr2tm1Ewj/Fgfr2+
Tg(EIIa-cre)C5379Lmgd/0
B6.Cg-Fgfr2tm1Ewj Tg(EIIa-cre)C5379Lmgd
 
cn2  Disease Model
Fgfr2tm1Ewj/Fgfr2+
Tg(EIIa-cre)C5379Lmgd/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N
 
Phenotypes:
Affected Systems
cn1
cn2
show or hide all annotated terms
   
cardiovascular system
√
dilated heart atrium
√
abnormal vasodilation
√
cellular
√ √
abnormal osteoblast differentiation
√
enhanced osteoblast differentiation
√
increased osteoblast proliferation
√
craniofacial
√ √
abnormal craniofacial bone morphology
√
abnormal cranial suture morphology
√ √
abnormal coronal suture morphology
√
wide metopic suture
√
abnormal sagittal suture morphology
√
abnormal intermaxillary suture morphology
√
abnormal maxillary-premaxillary suture morphology
√
abnormal basicranium morphology
√
decreased cranium height
√
decreased cranium length
√
increased cranium height
√
small cranium
√ √
abnormal interparietal bone morphology
√
parietal bossing
√
abnormal zygomatic arch morphology
√
small neurocranium
√
abnormal mandible morphology
√
abnormal mandibular angle morphology
√
small mandible
√
short mandible
√
abnormal maxillary frontal process morphology
√
abnormal maxillary zygomatic process morphology
√
short maxilla
√ √
abnormal nasal bone morphology
√
short nasal bone
√
small face
√
abnormal palate morphology
√ √
abnormal palatal shelf fusion at midline
√
decreased palatal length
√
abnormal head shape
√
shortened head
√
digestive/alimentary system
√ √
abnormal palate morphology
√ √
abnormal palatal shelf fusion at midline
√
decreased palatal length
√
aerophagia
√
meteorism
√
endocrine/exocrine glands
√
abnormal thymus morphology
√
growth/size/body
√ √
abnormal nasal bone morphology
√
short nasal bone
√
small face
√
abnormal palate morphology
√ √
abnormal palatal shelf fusion at midline
√
decreased palatal length
√
abnormal head shape
√
shortened head
√
meteorism
√
decreased birth weight
√
decreased body weight
√
decreased body length
√
hematopoietic system
√
abnormal thymus morphology
√
decreased osteoclast cell number
√
homeostasis/metabolism
√
pulmonary alveolar proteinosis
√
immune system
√
abnormal thymus morphology
√
decreased osteoclast cell number
√
bronchiolectasis
√
mortality/aging
√
neonatal lethality, complete penetrance
√
muscle
√
abnormal vasodilation
√
nervous system
√
abnormal brain morphology
√
hydrocephaly
√
increased brain size
√
enlarged fourth ventricle
√
abnormal cerebral hemisphere morphology
√
abnormal corpus callosum morphology
√
respiratory system
√ √
abnormal nasal bone morphology
√
short nasal bone
√
pulmonary alveolar proteinosis
√
bronchiolectasis
√
atelectasis
√
abnormal tracheal cartilage morphology
√
respiratory failure
√
skeleton
√ √
abnormal osteoblast differentiation
√
enhanced osteoblast differentiation
√
increased osteoblast proliferation
√
abnormal craniofacial bone morphology
√
abnormal cranial suture morphology
√ √
abnormal coronal suture morphology
√
wide metopic suture
√
abnormal sagittal suture morphology
√
abnormal intermaxillary suture morphology
√
abnormal maxillary-premaxillary suture morphology
√
abnormal basicranium morphology
√
decreased cranium height
√
decreased cranium length
√
increased cranium height
√
small cranium
√ √
abnormal interparietal bone morphology
√
parietal bossing
√
abnormal zygomatic arch morphology
√
small neurocranium
√
abnormal mandible morphology
√
abnormal mandibular angle morphology
√
small mandible
√
short mandible
√
abnormal maxillary frontal process morphology
√
abnormal maxillary zygomatic process morphology
√
short maxilla
√ √
abnormal nasal bone morphology
√
short nasal bone
√
decreased osteoclast cell number
√
abnormal cartilage morphology
√
abnormal tracheal cartilage morphology
√
abnormal cartilage development
√
abnormal long bone hypertrophic chondrocyte zone
√
premature cranial suture closure
√
premature coronal suture closure
√ √
premature lambdoid suture closure
√
premature zygomaticomaxillary suture closure
√
vision/eye
√
decreased inner canthal distance
√
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Key:
√ disease model   expected model not found
Models:
Human Diseases
cn2
IDs
 √
Expression
In Mice Carrying this Mutation: 57 assay results
2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 32 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Fgfr2 Mutation:  90 strains or lines available
References
Original:  J:101174 Wang Y, et al., Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse. Development. 2005 Aug;132(15):3537-48
All:  18 reference(s)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory