Stock 129S6.129P2(Cg)-Fgfr3<tm1.1Aomw>/AomwH

FESA Number

2047

Strain Name

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

Mutation Strain Type

Attribution

Institution name Depositor / Originator Name
University of Oxford Originator Retained
University of Oxford Depositor Retained

Phenotypic Description

All homozygous males, some homozygous females and some heterozygous males develop an abnormal skull phenotype sometimes with malocclusion, and may be smaller in size. The phenotype is not fully penetrant. Refer to publication for further information: PMID:19086028.

Orphanet Disorders

OrphaNet ID Name Url
15 Achondroplasia http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=15
429 Hypochondroplasia http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=429
794 Saethre-Chotzen syndrome http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=794
2 343 Isolated cloverleaf skull syndrome http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2343
1 555 Cutis gyrata - acanthosis nigricans - craniosynostosis http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1555
1 860 Thanatophoric dysplasia type 1 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1860
2 363 Lacrimo-auriculo-dento-digital syndrome http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2363
251 576 Gliosarcoma http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251576
251 579 Giant cell glioblastoma http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251579
35 099 Isolated brachycephaly http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=35099
35 098 Isolated plagiocephaly http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=35098
53 271 Muenke syndrome http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=53271
93 262 Crouzon syndrome - acanthosis nigricans http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93262
93 274 Thanatophoric dysplasia type 2 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93274
85 164 Camptodactyly - tall stature - scoliosis - hearing loss http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85164
85 165 Severe achondroplasia - developmental delay - acanthosis nigricans http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85165

Publications

Orphanet Categories

Rare developmental defect during embryogenesis
Rare bone disease
Rare eye disease
Rare oncologic disease
Rare skin disease
Rare odontologic disease
Rare otorhinolaryngologic disease
Rare neurologic disease

EMMA ID

EM:02541

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