B6.129-Gsc^tm1Pgr/Cnrm

Status	Under development - register interest
EMMA ID	EM:00110
Citation information	RRID:IMSR_EM:00110 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information.
International strain name	B6.129-Gsc^tm1Pgr/Cnrm
Alternative name	Gsc-KO
Strain type	Targeted Mutant Strains : Knock-out
Allele/Transgene symbol	Gsc^tm1Pgr
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	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

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)

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

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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Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*

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Practical information

Example health report
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Material Transfer Agreement (MTA)
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Legally binding conditions for the transfer

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B6.129-Gsctm1Pgr/Cnrm