B6.129-Ptch1^tm1Zim/Cnrm

Status	Available to order
EMMA ID	EM:00159
International strain name	B6.129-Ptch1^tm1Zim/Cnrm
Alternative name	Ptc-B6 KO
Strain type	Targeted Mutant Strains : Knock-out
Allele/Transgene symbol	Ptch1^tm1Zim
Gene/Transgene symbol	Ptch1

Information from provider

Provider	Heidi Hahn
Provider affiliation	University of Goettingen, Institute of Human Genetics
Genetic information	To 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 information	Up 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 history	Backcrossed 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 centre	CNR, 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

Gorlin syndrome / Orphanet_377
Alobar holoprosencephaly / Orphanet_93925
Midline interhemispheric variant of holoprosencephaly / Orphanet_93926
Microform holoprosencephaly / Orphanet_280200
Septopreoptic holoprosencephaly / Orphanet_280195
Semilobar holoprosencephaly / Orphanet_220386
Lobar holoprosencephaly / Orphanet_93924

IMPC phenotypes (gene matching)

preweaning lethality, complete penetrance / IMPC

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

MGI phenotypes (gene matching)

abnormal neurocranium morphology / MGI
abnormal interparietal bone morphology / MGI
abnormal basisphenoid bone morphology / MGI
abnormal frontal bone morphology / MGI
abnormal parietal bone morphology / MGI
abnormal rib morphology / MGI
abnormal sternum morphology / MGI
abnormal xiphoid process morphology / MGI
kyphosis / MGI
abnormal vascular development / MGI
abnormal heart development / MGI
belly spot / MGI
focal hair loss / MGI
abnormal craniofacial morphology / MGI
abnormal head morphology / MGI
shortened head / MGI
abnormal cranium morphology / MGI
domed cranium / MGI
polydactyly / MGI
syndactyly / MGI
abnormal foot pad morphology / MGI
kinked tail / MGI
thick tail / MGI
short tail / MGI
abnormal cerebellar molecular layer / MGI
exencephaly / MGI
incomplete rostral neuropore closure / MGI
open neural tube / MGI
abnormal telencephalon development / MGI
abnormal cranial ganglia morphology / MGI
abnormal geniculate ganglion morphology / MGI
abnormal trigeminal ganglion morphology / MGI
abnormal glossopharyngeal ganglion morphology / MGI
abnormal spermatogenesis / MGI
small seminal vesicle / MGI
dermal cysts / MGI
increased body size / MGI
ocular hypertelorism / MGI
increased embryo size / MGI
embryonic growth arrest / MGI
infertility / MGI
male infertility / MGI
female infertility / MGI
neoplasm / MGI
increased tumor incidence / MGI
increased rhabdomyosarcoma incidence / MGI
prenatal lethality / MGI
premature death / MGI
no abnormal phenotype detected / MGI
cryptorchism / MGI
abnormal enamel morphology / MGI
small male preputial glands / MGI
no phenotypic analysis / MGI
omphalocele / MGI
decreased rib number / MGI
decreased fear-related response / MGI
abnormal nervous system morphology / MGI
increased hemangiosarcoma incidence / MGI
abnormal vestibulocochlear ganglion morphology / MGI
abnormal neural tube closure / MGI
abnormal lambdoid suture morphology / MGI
increased mortality induced by ionizing radiation / MGI
increased fetal size / MGI
small otic vesicle / MGI
scapular bone foramen / MGI
absent presphenoid bone / MGI
alisphenoid bone hypoplasia / MGI
small basisphenoid bone / MGI
increased incidence of tumors by ionizing radiation induction / MGI
abnormal thoracic cavity morphology / MGI
dermal hyperplasia / MGI
abnormal tendon morphology / MGI
abnormal skeleton morphology / MGI
abnormal neural plate morphology / MGI
increased medulloblastoma incidence / MGI
abnormal nasal placode morphology / MGI
absent optic vesicle / MGI
small second pharyngeal arch / MGI
asymmetric sternocostal joints / MGI
abnormal intramembranous bone ossification / MGI
craniorachischisis / MGI
abnormal sternum manubrium morphology / MGI
preaxial polydactyly / MGI
absent palatal shelf / MGI
palatal shelf hypoplasia / MGI
cleft secondary palate / MGI
abnormal neuron differentiation / MGI
abnormal basicranium morphology / MGI
increased gastrointestinal tumor incidence / MGI
increased skin tumor incidence / MGI
absent third pharyngeal arch / MGI
absent fourth pharyngeal arch / MGI
abnormal mandibular prominence morphology / MGI
abnormal maxillary prominence morphology / MGI
postnatal lethality, complete penetrance / MGI
embryonic lethality, complete penetrance / MGI
embryonic lethality during organogenesis, complete penetrance / MGI
prenatal lethality, incomplete penetrance / MGI
embryonic lethality during organogenesis, incomplete penetrance / MGI
lethality throughout fetal growth and development, incomplete penetrance / MGI
absent forebrain / MGI
increased lymphoma incidence / MGI
abnormal upper incisor morphology / MGI
mandibular cysts / MGI
short mandibular coronoid process / MGI
mandibular coronoid process hypoplasia / 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
Sensitive Detection of Radiation-Induced Medulloblastomas after Acute or Protracted Gamma-Ray Exposures in Ptch1 Heterozygous Mice Using a Radiation-Specific Molecular Signature.;Tsuruoka Chizuru, Blyth Benjamin J, Morioka Takamitsu, Kaminishi Mutsumi, Shinagawa Mayumi, Shimada Yoshiya, Kakinuma Shizuko, ;2016;Radiation research;186;407-414; 27690174
The Ptch1(DL) mouse: a new model to study lambdoid craniosynostosis and basal cell nevus syndrome-associated skeletal defects.;Feng Weiguo, Choi Irene, Clouthier David E, Niswander Lee, Williams Trevor, ;2013;Genesis (New York, N.Y. : 2000);51;677-89; 23897749
Relative Biological Effectiveness of Carbon Ion Beams for Induction of Medulloblastoma with Radiation-specific Chromosome 13 Deletion in Ptch1+/- Mice.;Tsuruoka Chizuru, Shinagawa Mayumi, Shang Yi, Amasaki Yoshiko, Sunaoshi Masaaki, Imaoka Tatsuhiko, Morioka Takamitsu, Shimada Yoshiya, Kakinuma Shizuko, ;2024;Radiation research;202;503-509; 39048112

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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^*

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).

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B6.129-Ptch1tm1Zim/Cnrm