- abnormal vomer bone morphology / MGI
- abnormal mandible morphology / MGI
- mandible hypoplasia / MGI
- abnormal nasal cavity morphology / MGI
- abnormal nasal septum morphology / MGI
- absent malleus processus brevis / MGI
- absent tympanic ring / MGI
- abnormal masticatory muscle morphology / MGI
- small pterygoid bone / MGI
- small alisphenoid bone / MGI
- palatine bone hypoplasia / MGI
- abnormal mandibular angle morphology / MGI
- abnormal nasal capsule morphology / MGI
- abnormal palatine bone morphology / MGI
- abnormal Meckel's cartilage morphology / MGI
- abnormal tympanic membrane morphology / MGI
- absent tympanic membrane / MGI
- decreased tympanic ring size / MGI
- small malleus manubrium / MGI
- absent gastric milk in neonates / MGI
- decreased birth body size / MGI
- absent external auditory canal / MGI
- neonatal lethality, complete penetrance / MGI
- abnormal horizontal basal cell of olfactory epithelium morphology / MGI
- absent ethmoturbinates / MGI
- abnormal epitympanic recess morphology / MGI
- abnormal intrinsic tongue muscle morphology / MGI
- small vomer bone / MGI
- small mandibular coronoid process / MGI
- abnormal ethmoid bone morphology / MGI
- rib fusion / MGI
- increased rib number / MGI
- abnormal femur morphology / MGI
- abnormal joint morphology / MGI
- abnormal presphenoid bone morphology / MGI
- presphenoid bone hypoplasia / MGI
- cervical vertebral transformation / MGI
- abnormal trochanter morphology / MGI
- abnormal humerus morphology / MGI
- abnormal sternocostal joint morphology / MGI
- abnormal basicranium morphology / MGI
- small cribriform plate / MGI
B6.129-Gsctm1Pgr/Cnrm
Status | Available to order |
EMMA ID | EM:00110 |
International strain name | B6.129-Gsctm1Pgr/Cnrm |
Alternative name | Gsc-KO |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Gsctm1Pgr |
Gene/Transgene symbol | Gsc |
Information from provider
Provider | Peter Gruss |
Provider affiliation | Max Planck Inst. Biophysical Chemistry |
Phenotypic information | Complex developmental defects of the base of the skull. |
References |
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Information from EMMA
Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome / Orphanet_397623
MGI phenotypes (allele matching)
MGI phenotypes (gene matching)
- abnormal malleus morphology / MGI
- abnormal middle ear morphology / MGI
- short mandible / MGI
- abnormal vomer bone morphology / MGI
- abnormal ethmoid bone morphology / MGI
- abnormal frontal bone morphology / MGI
- abnormal rib morphology / MGI
- rib fusion / MGI
- abnormal craniofacial morphology / MGI
- abnormal jaw morphology / MGI
- abnormal maxilla morphology / MGI
- abnormal mandible morphology / MGI
- mandible hypoplasia / MGI
- increased rib number / MGI
- abnormal suckling behavior / MGI
- abnormal breathing pattern / MGI
- abnormal nose morphology / MGI
- abnormal nasal cavity morphology / MGI
- abnormal nasal mucosa morphology / MGI
- abnormal nasal septum morphology / MGI
- abnormal joint morphology / MGI
- absent malleus processus brevis / MGI
- absent tympanic ring / MGI
- abnormal alisphenoid bone morphology / MGI
- pallor / MGI
- abnormal masticatory muscle morphology / MGI
- abnormal presphenoid bone morphology / MGI
- presphenoid bone hypoplasia / MGI
- abnormal pterygoid process morphology / MGI
- small pterygoid bone / MGI
- small alisphenoid bone / MGI
- palatine bone hypoplasia / MGI
- abnormal mandibular angle morphology / MGI
- cervical vertebral transformation / MGI
- abnormal trochanter morphology / MGI
- small ischium / MGI
- abnormal nasal capsule morphology / MGI
- absent turbinates / MGI
- abnormal palatine bone morphology / MGI
- abnormal humerus morphology / MGI
- limbs/digits/tail phenotype / MGI
- endocrine/exocrine gland phenotype / MGI
- abnormal Meckel's cartilage morphology / MGI
- abnormal tympanic membrane morphology / MGI
- absent tympanic membrane / MGI
- decreased tympanic ring size / MGI
- abnormal external auditory canal morphology / MGI
- abnormal sternocostal joint morphology / MGI
- small malleus manubrium / MGI
- small malleus processus brevis / MGI
- absent gastric milk in neonates / MGI
- abnormal pubic symphysis morphology / MGI
- decreased birth body size / MGI
- absent external auditory canal / MGI
- abnormal basicranium morphology / MGI
- neonatal lethality, complete penetrance / MGI
- abnormal horizontal basal cell of olfactory epithelium morphology / MGI
- absent ethmoturbinates / MGI
- abnormal epitympanic recess morphology / MGI
- abnormal intrinsic tongue muscle morphology / MGI
- abnormal extrinsic tongue muscle morphology / MGI
- abnormal genioglossus muscle morphology / MGI
- small vomer bone / MGI
- small mandibular coronoid process / MGI
- small cribriform plate / MGI
- abnormal femur head morphology / MGI
- abnormal shoulder joint morphology / MGI
- abnormal obturator foramen morphology / MGI
- abnormal hip joint morphology / MGI
- abnormal acetabulum morphology / MGI
- abnormal glenoid fossa morphology / MGI
- abnormal scapular coracoid process morphology / MGI
Literature references
- Targeted mutation of the murine goosecoid gene results in craniofacial defects and neonatal death.;Yamada G, Mansouri A, Torres M, Stuart E T, Blum M, Schultz M, De Robertis E M, Gruss P, ;1995;Development (Cambridge, England);121;2917-22; 7555718
- Homeobox gene expression in adult dorsal root ganglia during sciatic nerve regeneration: is regeneration a recapitulation of development?;Vogelaar Christina F, Hoekman Marco F M, Gispen Willem Hendrik, Burbach J Peter H, ;2003;European journal of pharmacology;480;233-50; 14623366
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