129X1-Smo^tm1Amc/J

Stock number: 004288
Product name: Smo-
Research areas: Developmental Biology Research

Description

These Smo knock-out mice have an embryonic lethal phenotype and exhibit ventral cyclopia and holoprosencephaly.

Detailed description

Mice that are heterozygous for the targeted allele 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 9.5 days post coitum. Homozygous mutant mice exhibit ventral cyclopia and holoprosencephaly. During development homozygous mice fail to undergo embryonic turning, closure of the ventral midgut and normal rightward looping of the heart. The embryonic heart remains a linear tube. This mutant mouse strain represents a model that may be useful in studies of tumors and neural tube defects due to disruption of the hedgehog pathways.

When bred to a strain with loxP sites inserted into the same targeted allele (Stock No. 004526) and a strain expressing Cre recombinase in the skin (Stock No. 004782), this mutant mouse strain may be useful in studies of hedgehog signalling and cell proliferation in the dental epithelium.

When bred to a strain with loxP sites inserted into the same targeted allele (Stock No. 004526) and a strain expressing Cre recombinase in the nervous system (Stock No. 003771), this mutant mouse strain may be useful in studies of hedgehog signalling and cerebellar foliation.

When bred to a strain with loxP sites inserted into the same targeted allele (Stock No. 004526) and a strain expressing Cre recombinase in the midbrain/dorsal spinal cord (Stock No. 007807), this mutant mouse strain may be useful in studies of craniofacial development.

Development

A targeting vector containing neomycin resistance and herpes simplex virus thymidine kinase genes was used to disrupt a 400 bp region in the first exon of the targeted allele. The construct was electroporated into 129X1/SvJ derived AV3 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6J derived blastocysts. Chimeric male animals were bred to 129X1/SvJ mice. The chimeric male was bred to a female bearing a Gtrosa26 allele. The alleles were maintained together by the Donating Investigator as a TM/Tg combination for a number of generations by heterozygote X heterozygote crosses. Upon arrival at The Jackson Laboratory, the transgenic allele was eliminated.

Allele

Symbol: Smo^tm1Amc
Name: targeted mutation 1, Andrew P McMahon
MGI accession ID: MGI:2176255
Generation method: Targeted
Attributes: Null/Knockout
Marker symbol: Smo
Marker name: smoothened, frizzled class receptor
Chromosome: 6
Strain of origin: 129X1/SvJ
Molecular note: An frt-flanked neomycin resistance cassette replaced a segment containing 44 bp upstream and 358 bp downstream of the translation initiation codon.