B6.129X1-Sufu^tm1Rto/Kctt

Status	Available to order
EMMA ID	EM:01867
Citation information	RRID:IMSR_EM:01867 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	B6.129X1-Sufu^tm1Rto/Kctt
Alternative name	B6.129X1/SvJ-Sufutm1Rto
Strain type	Targeted Mutant Strains : Knock-out
Allele/Transgene symbol	Sufu^tm1Rto
Gene/Transgene symbol	Sufu

Information from provider

Provider	Stephan Teglund
Provider affiliation	Cell and Molecular Biology, Karolinska Institutet
Genetic information	Exon 1 and part of the upstream promoter of the Sufu gene was replaced by a neomycin selection cassette.
Phenotypic information	Sufu -/- mutants are embryonic lethal around E9.5 with cephalic and neural tube defects. Heterozygotes develop a skin phenotype with age, characterized by basaloid follicular hamartomas, increased pigmentation, mild alopecia.
References	Genetic elimination of Suppressor of fused reveals an essential repressor function in the mammalian Hedgehog signaling pathway.;Svärd Jessica, Heby-Henricson Karin, Persson-Lek Madelen, Rozell Björn, Lauth Matthias, Bergström Asa, Ericson Johan, Toftgård Rune, Teglund Stephan, ;2006;Developmental cell;10;187-97; 16459298

Information from EMMA

Archiving centre	Karolinska Institutet, Stockholm, Sweden

Disease and phenotype information

MGI allele-associated human disease models

nevoid basal cell carcinoma syndrome / DOID:2512

Orphanet associated rare diseases, based on orthologous gene matching

Gorlin syndrome / Orphanet_377
Meningioma / Orphanet_2495
Acrocallosal syndrome / Orphanet_36
Joubert syndrome / Orphanet_475

IMPC phenotypes (gene matching)

abnormal limb bud morphology / IMPC
pallor / IMPC
preweaning lethality, complete penetrance / IMPC
abnormal placenta size / IMPC
embryonic growth retardation / IMPC
abnormal liver size / IMPC
abnormal embryo size / IMPC
abnormal forebrain development / IMPC
pale yolk sac / IMPC
abnormal stomach morphology / IMPC
abnormal hindbrain development / IMPC
decreased total body fat amount / IMPC
increased startle reflex / IMPC
abnormal neural tube closure / IMPC
enlarged lymph nodes / IMPC
abnormal midbrain development / IMPC
cardiovascular system phenotype / IMPC
abnormal eye morphology / IMPC
pale liver / IMPC
embryonic lethality prior to tooth bud stage / IMPC

MGI phenotypes (allele matching)

alopecia / MGI
abnormal epidermis stratum basale morphology / MGI
abnormal coat/hair pigmentation / MGI
abnormal skin appearance / MGI
abnormal floor plate morphology / MGI
open neural tube / MGI
abnormal neural tube morphology / MGI
abnormal forebrain development / MGI
abnormal midbrain development / MGI
abnormal hindbrain development / MGI
embryonic lethality during organogenesis, complete penetrance / MGI

MGI phenotypes (gene matching)

cleft palate / MGI
abnormal heart morphology / MGI
overriding aortic valve / MGI
double outlet right ventricle / MGI
alopecia / MGI
abnormal craniofacial morphology / MGI
microcephaly / MGI
polydactyly / MGI
exencephaly / MGI
abnormal floor plate morphology / MGI
open neural tube / MGI
abnormal epidermis stratum basale morphology / MGI
abnormal somite development / MGI
incomplete embryo turning / MGI
abnormal dorsal-ventral axis patterning / MGI
abnormal left-right axis patterning / MGI
edema / MGI
hemorrhage / MGI
intracranial hemorrhage / MGI
abnormal coat/hair pigmentation / MGI
abnormal developmental patterning / MGI
abnormal limb morphology / MGI
abnormal neural tube morphology / MGI
no abnormal phenotype detected / MGI
micrognathia / MGI
no phenotypic analysis / MGI
abnormal forebrain development / MGI
small lung / MGI
abnormal neural tube closure / MGI
abnormal midbrain development / MGI
embryonic growth retardation / MGI
abnormal primitive node morphology / MGI
abnormal coronary artery morphology / MGI
failure of initiation of embryo turning / MGI
abnormal direction of heart looping / MGI
abnormal myocardium layer morphology / MGI
abnormal hindbrain development / MGI
abnormal skin appearance / MGI
perimembraneous ventricular septal defect / MGI
muscular ventricular septal defect / MGI
descending aorta dilation / MGI
coronary fistula / MGI
brain aneurysm / MGI
embryonic lethality during organogenesis, complete penetrance / MGI
lethality throughout fetal growth and development, complete penetrance / MGI
abnormal head shape / MGI

Literature references

Genetic elimination of Suppressor of fused reveals an essential repressor function in the mammalian Hedgehog signaling pathway.;Svärd Jessica, Heby-Henricson Karin, Persson-Lek Madelen, Rozell Björn, Lauth Matthias, Bergström Asa, Ericson Johan, Toftgård Rune, Teglund Stephan, ;2006;Developmental cell;10;187-97; 16459298

Information on how we integrate external resources can be found here

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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).

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)
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

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B6.129X1-Sufutm1Rto/Kctt