129S1/Sv-Sufu^tm1Aeb/J

Stock number: 007859
Research areas: Developmental Biology Research

Description

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.

Detailed description

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.

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

Symbol: Sufu^tm1Aeb
Name: targeted mutation 1, Allen E Bale
MGI accession ID: MGI:3512046
Generation method: Targeted
Attributes: Null/Knockout
Marker symbol: Sufu
Marker name: SUFU negative regulator of hedgehog signaling
Marker synonyms: 2810026F04Rik; b2b273Clo; BCNS2; JBTS32; PRO1280; Su(Fu); SUFUH; SUFUXL
Chromosome: 19
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.