B6.129-Gsctm1Pgr/Cnrm

Status

Available to order

EMMA IDEM:00110
International strain nameB6.129-Gsctm1Pgr/Cnrm
Alternative nameGsc-KO
Strain typeTargeted Mutant Strains : Knock-out
Allele/Transgene symbolGsctm1Pgr
Gene/Transgene symbolGsc

Information from provider

ProviderPeter Gruss
Provider affiliationMax Planck Inst. Biophysical Chemistry
Phenotypic informationComplex 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 centreCNR, 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

Information on how we integrate external resources can be found here

Order

Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

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

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

EMMA conditions
Legally binding conditions for the transfer

Other EMMA strains

Not found what you were looking for? Search here for other strains available from EMMA.


Search
INFRAFRONTIER® and European Mouse Mutant Archive - EMMA® are registered trademarks at the European Union Intellectual Property Office (EUIPO).