These Sufu, suppressor of fused homolog (Drosophila), mutant mice may be useful in studying the Hedgehog signaling pathway and embryonic development. Homozygotes for the allele fail to develop past embryonic day 10 and exhibit growth retardation, incomplete embryonic turning, abnormal somite development, abnormal left-right axial patterning and open neural tubes.
Allen E. Bale, Yale University
Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Homozygous null mice have an embryonic lethal phenotype, failing to develop past embryonic days 9.5 to 10. No gene product (protein) is detected by Western blot analysis. Truncated gene product (mRNA) is detected by Northern blot analysis. Homozygous embryos at 9 to 9.5 embryonic day exhibit growth retardation, incomplete embryonic turning, abnormal somite development, abnormal heart looping (due to abnormal left-right axial patterning) and open neural tubes. This mutant mouse strain may be useful in studies of the Hedgehog signaling pathway and embryonic development.
A targeting vector containing a loxP site flanked (floxed) neomycin resistance and herpes simplex virus thymidine kinase genes was used to disrupt the intron 6/exon 7 junction and part of exon 7. The construct was electroporated into 129S1/Sv-p+ Tyr+ Kitl+ derived W9.5 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6 blastocysts. The resulting chimeric male animals were crossed to 129S1 female
mice. The strain was maintained as heterozygotes on the
129S1 background prior to arriving at The Jackson Laboratory.
|Allele Name||targeted mutation 1, Allen E Bale|
|Allele Type||Targeted (Null/Knockout)|
|Allele Synonym(s)||Sufutm1Aeb; targeted mutation 1, Allen E Bale|
|Gene Symbol and Name||Sufu, SUFU negative regulator of hedgehog signaling|
|Gene Synonym(s)||b2b273Clo; 2810026F04Rik; Mutant line 273; 2810026F04Rik; b2b273Clo; PRO1280; RIKEN cDNA 2810026F04 gene; SUFUH; SUFUXL; Su(Fu); JBTS32|
|Strain of Origin||129S1/Sv-Oca2+ Tyr+ Kitl+|
|Molecular Note||Vector contains exon 4 through the 3' end of intron 6 then PGK-driven NEO in orientation reverse to the gene followed by the 3' end of exon 7 through the end of exon 8. Correct targeting replaces the intron 6/exon 7 splice site and a portion of exon 7 with the neo casette. Northern and Western blot analysis confirmed the absence of transcription and translation.|
|Mutations Made By|| |
Allen Bale, Yale University
When maintaining a live colony, these mice are bred as heterozygotes. Homozygotes do not survive past embryonic day 10.5.
When using the 129S1/Sv-Sufutm1Aeb/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #007859 in your Materials and Methods section.
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