Fmn1^{ld-Is(17;In2)1Gso}
Radiation induced Allele Detail

Summary

• Symbol: Fmn1^{ld-Is(17;In2)1Gso}
• Name: formin 1; limb deformity insertion 1 Generoso
• MGI ID: MGI:1856338
• Synonyms: Fmn^ld-In2, Fmn^ld-Is1Gso, Is(17;In2)1Gso, Is((17;In2)ld, a^j1Gso, Is1Gso, Is/Gso, Is(In)1Gso, ld^In2, ld-In2
• Gene: Fmn1 Location: Chr2:113158081-113547112 bp, + strand Genetic Position: Chr2, 57.3 cM, cytoband C1-qter
• Alliance: Fmn1^{ld-Is(17;In2)1Gso} page

Mutation origin

• Strain of Origin: (C3H/Rl x 101/Rl)F1

Mutation description

• Allele Type: Radiation induced
• Mutations: Inversion, Translocation
• Fmn1^{ld-Is(17;In2)1Gso} involves 1 genes/genome features (Fmn1) View all
• Mutation details: This allele produces altered transcripts, and truncated isoforms of the protein, and also disrupts a regulatory element that affects the expression of the downstream Grem1 gene. A radiation induced translocation-inversion involving mouse Chromosomes 2 and 17 simultaneously generated this limb deformity mutation and a nonagouti mutation, jet black. The Chromosome 2 breakpoint of the ~40Mb inversion is in the C-terminal region of the Fmn1 gene, approximately 8 kb on the 3' side of the integration site of the transgene that produced the allele Fmn1^ld-TgHD. Cytogenetic analysis showed that an interstitial segment of Chromosome 17 had been translocated to the distal end of Chromosome 2 at band 2H1, resulting in a smaller than normal Chr 17 (17^del) and a larger Chr 2 (2¹⁷). Additionally, a larger interstitial segment of the 2¹⁷ Chr from 2E4 to 2H1 was inverted, placing the limb deformity locus in band 2E4 adjacent to nonagouti (a), which was previously known to be more distantly located at 2H1 (J:10399). In brain, kidney, testis, and salivary gland of homozygous mutant mice the 13 kb wild-type transcript was not detected by ribonuclease protection analysis. (J:10399, J:38417, J:43337)
• Inheritance: Recessive

Expression

In Mice Carrying this Mutation:

94 assay results

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Fmn1 Mutation: 75 strains or lines available

Notes

Mutant mice display severely deformed forelimbs and hindlimbs; and some have kidney defects. This mutation was determined to be allelic to Grem1 through complementation analysis (J:10399).

This mutation is also allelic to Grem1^tm1Azun (J:. Transcription was not detected in the limb bud mesenchyme of compound heterozygous mutant embryos.

Interestingly, although the total length of the gene is probably greater than 200 kb, both transgenic insertions (Fmn1^ld-TgHD and Fmn1^ld-TgBri137) and the chromosomal rearrangement (Fmn1^{ld-Is(17;In2)1Gso}) have occurred within the same 11 kb region (J:1741). Morphological effects of these gross chromosomal changes within this gene resemble those of the Grem1^ld and Grem1^ld-J mutations.

Transcripts are disrupted in both this mutation and the Fmn1^ld-TgHD mutation, with one common set being abolished (J:22162).

Genbank ID for this mutation: U60969

References

• Original: J:10399 Woychik RP, et al., Molecular and genetic characterization of a radiation-induced structural rearrangement in mouse chromosome 2 causing mutations at the limb deformity and agouti loci. Proc Natl Acad Sci U S A. 1990 Apr;87(7):2588-92
• All: 10 reference(s)