Stock Tbx22<tm1Sta>

FESA Number

9112

Strain Name

Tbx22<tm1Sta>

Mutation Strain Type

Attribution

Institution name Depositor / Originator Name
University College London Originator Retained
University College London Depositor Retained

Gene/Allele Information

Allele Name Allele MGI ID Gene Name Gene MGI ID Chromosome
Tbx22<tm1Sta> MGI:4361266 X

Phenotypic Description

Heterozygotes: Males: submucous cleft palate due to reduced palatal bone formation and also display variable ankyloglossia and occasional choanal atresia. Females: normal. Homozygotes: submucous cleft palate due to reduced palatal bone formation and also display variable ankyloglossia and occasional choanal atresia.

Orphanet Disorders

OrphaNet ID Name Url
921 Abruzzo-Erickson syndrome http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=921
324 601 X-linked cleft palate and ankyloglossia http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=324601

Publications

Orphanet Categories

Rare developmental defect during embryogenesis
Rare urogenital disease
Rare otorhinolaryngologic disease
Rare maxillo-facial surgical disease

EMMA ID

EM:11844

Genetic Status

GMO

Background Strain Name

C57BL/6J

Background Strain MGI ID

MGI:3028467

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