PDT/Pas

Status

Available to order

EMMA IDEM:01165
Citation informationRRID:IMSR_EM:01165 

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International strain namePDT/Pas
Alternative namepolydactyly
Strain typeInduced Mutant Strains : Chemically-induced
Allele/Transgene symbolTwist1Pas
Gene/Transgene symbolTwist1

Information from provider

ProviderJean-Louis Guénet
Provider affiliationInstitut Pasteur
Genetic informationThis ENU induced mutation was found to be allelic through complementation analysis with a known allele at the Twist1 locus. No sequence alteration was found in the coding region of the gene. A decrease in transcript was noted by in situ hybridization.
Phenotypic informationHomozygous mutant embyros have neural tube defects and die around E11. Heterozygous mutants are viable and exhibit features of human Saethre-Chotzen syndrome, including hindlimb polydactyly and craniofacial defects.
Breeding historyBred by crossing heterozygous and wild-type mice.
References
  • A new mouse limb mutation identifies a Twist allele that requires interacting loci on chromosome 4 for its phenotypic expression.;Blanc Isabelle, Bach Antoine, Lallemand Yvan, Perrin-Schmitt Fabienne, Guénet Jean-Louis, Robert Benoît, ;2003;Mammalian genome : official journal of the International Mammalian Genome Society;14;797-804; 14724733

Information from EMMA

Archiving centreInstitut de Transgenose, INTRAGENE, Orléans, France

Disease and phenotype information

MGI allele-associated human disease models

Orphanet associated rare diseases, based on orthologous gene matching

IMPC phenotypes (gene matching)
  • abnormal digit morphology / IMPC
  • abnormal autopod morphology / IMPC
  • abnormal zygomatic bone morphology / IMPC
  • abnormal pelvic girdle bone morphology / IMPC
  • abnormal brain morphology / IMPC
  • abnormal nail morphology / IMPC
  • increased lean body mass / IMPC
  • abnormal vertebrae morphology / IMPC
  • abnormal vertebral arch morphology / IMPC
  • increased grip strength / IMPC
  • decreased prepulse inhibition / IMPC
  • decreased total body fat amount / IMPC
  • abnormal cranium morphology / IMPC
MGI phenotypes (allele matching)
  • cleft palate / MGI
  • polydactyly / MGI
  • exencephaly / MGI
  • prenatal lethality, incomplete penetrance / MGI
MGI phenotypes (gene matching)
  • premature cranial suture closure / MGI
  • cleft palate / MGI
  • abnormal rib morphology / MGI
  • short limbs / MGI
  • abnormal forelimb morphology / MGI
  • polydactyly / MGI
  • abnormal muscle development / MGI
  • exencephaly / MGI
  • open neural tube / MGI
  • decreased body size / MGI
  • abnormal gait / MGI
  • internal hemorrhage / MGI
  • abnormal limb morphology / MGI
  • abnormal limb bone morphology / MGI
  • premature endochondral bone ossification / MGI
  • nervous system phenotype / MGI
  • enlarged interparietal bone / MGI
  • temporal bone hypoplasia / MGI
  • abnormal clavicle morphology / MGI
  • craniofacial phenotype / MGI
  • skeleton phenotype / MGI
  • abnormal bone ossification / MGI
  • abnormal osteoblast differentiation / MGI
  • short temporal bone squamous part / MGI
  • neonatal lethality, complete penetrance / MGI
  • embryonic lethality, complete penetrance / MGI
  • prenatal lethality, incomplete penetrance / MGI
  • premature coronal suture closure / MGI
  • premature lambdoid suture closure / MGI

Literature references

  • A new mouse limb mutation identifies a Twist allele that requires interacting loci on chromosome 4 for its phenotypic expression.;Blanc Isabelle, Bach Antoine, Lallemand Yvan, Perrin-Schmitt Fabienne, Guénet Jean-Louis, Robert Benoît, ;2003;Mammalian genome : official journal of the International Mammalian Genome Society;14;797-804; 14724733

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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*

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Practical information

Example health report
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