Genetic diseases, traits and transgenics

Mutations in BCOR cause hypodontia in Lenz micropthtalmia. human
Mutations in BCOR cause oligodontia in oculofaciocardiodigital syndrome (OFCD). human
Premolar agenesis, hyperhidrosis and canities prematura in Bk syndrome. human
Dominant mutations in human RUNX2 cause cleidocranial dysplasia and supernumerary teeth. human expression
In Runx2 null mutant heterozygote mouse, supernumerary teeth develop. mouse expression
In Runx2 null mutant mouse, tooth development is delayed and there is no differentiation. mouse expression
Mutations in DSPP cause dentin dysplasia. human
Dentin dysplasia in DSPP null mutant mouse. mouse
Mutations in DLX3 cause trichodentoosseous syndrome. human expression
Hypodontia in Down syndrome. human
Mutations in EDA cause X-linked anhidrotic ectodermal dysplasia (EDA). human expression
Supernumerary teeth and abnormal molars and enamel in incisors in mice with K14-EDA-overexpression. (Mustonen et al 2003) mouse expression
Tabby mouse has mutations in EDA. mouse expression
Mutations in EDARADD cause autosomal anhidrotic ectodermal dysplasia (EDA). human
Crinkled mouse have mutations in EDARADD. mouse
Mutations in human EDAR cause autosomal anhidrotic ectodermal dysplasia (EDA). human expression
Downless and Sleek mice have mutations in Edar. mouse expression
Agenesis or hypoplasia of primary incisors in Fried syndrome. human
Mutations in IKK-gamma cause incontinentia pigmenti (IP). human
Mutations in IKK-gamma cause HED-ID. human
Weak expression was detected at E11.5 and E12.5 in presumptive incisor epithelium. mouse expression
Mutations in human IRF6 cause van der Woude and popliteal pterygium syndromes. human expression
Agenesis of incisors and premolars in Kabuki syndrome. human
Mouse null mutants of Lef1 do not develop teeth. mouse expression
Mutations in MSX1 cause severe congenital tooth agenesis, oligodontia. human expression
In Msx1 null mutant mouse, teeth do not develop past bud stage. mouse expression
In Msx1/Msx2 double knockout mice, tooth development is arrested either during the initiation stage or early bud stages. mouse expression
Mutations in OFD1 cause Oral-Facial-Digital syndrome type I. human expression
Mutations in PITX2 gene cause Rieger syndrome. human expression
Mutations in PAX9 cause oligodontia (severe congenital tooth agenesis). human expression
in Pax9 null mutant mice, tooth development is arrested at bud stage. mouse expression
In Pitx2 null mutant mice tooth development is arrested at bud stage. mouse expression
Transgenic mice deficient in both Prx1 and Prx2 lack mandibular incisors. The development is arrested within bud stage as a single incisor bud.. mouse expression
Mutations in human PVRL1/nectin causes cleft lip/palate ectodermal dysplasia. human expression
Mutations in SHH cause holoprosencephaly. human expression
Oligodontia and nail dysplasia in Witkop syndrome. human
Oligodontia in Wolf-Hirschhorn syndrome. human
Partial failure in tooth development in transgenic mice deficient in Activin beta A. mouse expression
Tooth agenesis is often associated with oral clefts. human
Mutations in human GJA1 (coding connexin 43) cause oculodentodigital syndrome. human expression
Agenesis of incisors and premolars in diastrophic dysplasia. human
Hypodontia in hemifacial microsomia. human
Mutations in p63 cause EEC syndrome type 3. human expression
p63-deficient transgenic mice lack teeth, hair and hindlimbs. mouse expression
Agenesis of primary and permanent incisors in RIH. human

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Last edited 10.12.2004 by P.N.