- 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
B6.129X1-Sufutm1Rto/Kctt
Status | Available to order |
EMMA ID | EM:01867 |
International strain name | B6.129X1-Sufutm1Rto/Kctt |
Alternative name | B6.129X1/SvJ-Sufutm1Rto |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Sufutm1Rto |
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 |
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Information from EMMA
Archiving centre | Karolinska Institutet, Stockholm, Sweden |
Disease and phenotype information
MGI allele-associated human disease models
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)
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
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