- 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
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 |
|
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
MGI phenotypes (allele matching)
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
INFRAFRONTIER® and European Mouse Mutant Archive - EMMA® are registered trademarks at the European Union Intellectual Property Office (EUIPO).