B6.129-Ptch1tm1Zim/Cnrm

Status

Available to order

EMMA IDEM:00159
International strain nameB6.129-Ptch1tm1Zim/Cnrm
Alternative namePtc-B6 KO
Strain typeTargeted Mutant Strains : Knock-out
Allele/Transgene symbolPtch1tm1Zim,
Gene/Transgene symbolPtch1

Information from provider

ProviderHeidi Hahn
Provider affiliationUniversity of Goettingen, Institute of Human Genetics
Genetic informationTo inactivate Ptch1, exons 6 and 7 of the murine Ptch1 gene were replaced with a neomycin resistance cassette. The targeting construct backbone was a modified pPNT vector.
Phenotypic informationUp to 45% of heterozygous mice on the C57BL/6 background develop medulloblastoma. Model system for Nevoid basal cell carcinoma syndrome; model for medulloblastoma on C57BL/6 background.
Breeding historyBackcrossed to C57BL/6, N=12
References
  • Rhabdomyosarcomas and radiation hypersensitivity in a mouse model of Gorlin syndrome.;Hahn H, Wojnowski L, Zimmer A M, Hall J, Miller G, Zimmer A, ;1998;Nature medicine;4;619-22; 9585239
  • High incidence of medulloblastoma following X-ray-irradiation of newborn Ptc1 heterozygous mice.;Pazzaglia Simonetta, Mancuso Mariateresa, Atkinson Michael J, Tanori Mirella, Rebessi Simonetta, Majo Vincenzo Di, Covelli Vincenzo, Hahn Heidi, Saran Anna, ;2002;Oncogene;21;7580-4; 12386820

Information from EMMA

Archiving centreCNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy

Disease and phenotype information

MGI allele-associated human disease models

Orphanet associated rare diseases, based on orthologous gene matching

MGI phenotypes (allele matching)
  • abnormal head morphology / MGI
  • domed cranium / MGI
  • kinked tail / MGI
  • omphalocele / MGI
  • increased fetal size / MGI
  • increased mortality induced by ionizing radiation / MGI
  • increased incidence of tumors by ionizing radiation induction / MGI
  • increased medulloblastoma incidence / MGI
  • abnormal rib morphology / MGI
  • polydactyly / MGI
  • exencephaly / MGI
  • incomplete rostral neuropore closure / MGI
  • dermal cysts / MGI
  • increased body size / MGI
  • increased rhabdomyosarcoma incidence / MGI
  • decreased rib number / MGI
  • preaxial polydactyly / MGI
  • lethality throughout fetal growth and development, incomplete penetrance / MGI
  • mandibular cysts / MGI
  • abnormal neural tube closure / MGI
  • embryonic lethality during organogenesis, incomplete penetrance / MGI

Literature references

  • Rhabdomyosarcomas and radiation hypersensitivity in a mouse model of Gorlin syndrome.;Hahn H, Wojnowski L, Zimmer A M, Hall J, Miller G, Zimmer A, ;1998;Nature medicine;4;619-22; 9585239
  • High incidence of medulloblastoma following X-ray-irradiation of newborn Ptc1 heterozygous mice.;Pazzaglia Simonetta, Mancuso Mariateresa, Atkinson Michael J, Tanori Mirella, Rebessi Simonetta, Majo Vincenzo Di, Covelli Vincenzo, Hahn Heidi, Saran Anna, ;2002;Oncogene;21;7580-4; 12386820
  • Genetic ablation of Gpr37l1 delays tumor occurrence in Ptch1+/- mouse models of medulloblastoma.;Di Pietro Chiara, La Sala Gina, Matteoni Rafaele, Marazziti Daniela, Tocchini-Valentini Glauco P, ;2019;Experimental neurology;312;33-42; 30452905
  • Primary Cilia in the Murine Cerebellum and in Mutant Models of Medulloblastoma.;Di Pietro Chiara, Marazziti Daniela, La Sala Gina, Abbaszadeh Zeinab, Golini Elisabetta, Matteoni Rafaele, Tocchini-Valentini Glauco P, ;2017;Cellular and molecular neurobiology;37;145-154; 26935062

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

Genotyping protocol

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

Material Transfer Agreement (MTA)
For this strain no provider MTA is needed. Distribution is based on the EMMA conditions only.

EMMA conditions
Legally binding conditions for the transfer

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