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STOCK Fhl1tm1.1Mihi/J
Cat. No.: CEMM-07250904
Common Name: Fhl1pW122S
The X-linked Fhl1pW122S allele has loxP sites flanking exons 5-6 and a W122S (tryptophan to serine) knock-in to exon 5 of the Fhl1 gene. Mutations in FHL1 are associated with multiple X-linked muscle diseases. Hemizygous males exhibit progressive late-onset muscle weakness.
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| Status | Live Mouse Frozen Embryo |
| Age | 4 weeks 12 weeks Customized Age |
| Sex | Male Female |
| GENETICS | |
|---|---|
| Allele Symbol |
Fhl1tm1.1Mihi
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| Allele Name |
targeted mutation 1.1
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| Allele Attributes |
Conditional ready (e.g. floxed); Humanized sequence
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| Gene Symbol |
Fhl1
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| Gene Name |
four and a half LIM domains 1
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| Chromosome |
X
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| MGI Accession ID | show more close |
| Strain of Origin |
(129S/SvEv x C57BL/6N)F1
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| Molecular Note |
The targeting vector was designed to insert a point mutation (G365C) into exon 5 by site-directed mutagenesis. A loxP site was inserted upstream of exon 5 and an FRT flanked neomycin cassette followed be a second loxP site was inserted downstream of exon 6. The mutation results in a change in amino acid 422 from tryptophan to serine. Flp-mediated recombination removed the FRT flanked neo cassette leaving exons 5-6 floxed.
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| HUSBANDRY | |
|---|---|
| Breeding Considerations |
When maintaining a live colony, heterozygous females may be bred to hemizygous or wild-type males. This gene is X-linked.
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| Breeding Strategy |
Heterozygote x Hemizygote
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For Research Use Only.
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