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Allele : Fmn1<ld-Is(17;In2)1Gso> formin 1; limb deformity insertion 1 Generoso

Primary Identifier  MGI:1856338 Allele Type  Radiation induced
Gene  Fmn1 Inheritance Mode  Recessive
Strain of Origin  (C3H/Rl x 101/Rl)F1 Is Recombinase  false
Is Wild Type  false
description  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 Grem1tm1Azun (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 (Fmn1ld-TgHD and Fmn1ld-TgBri137) and the chromosomal rearrangement (Fmn1ld-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 Grem1ld and Grem1ld-J mutations.

Transcripts are disrupted in both this mutation and the Fmn1ld-TgHD mutation, with one common set being abolished (J:22162).

Genbank ID for this mutation: U60969

molecularNote  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 Fmn1ld-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 (17del) 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.
  • mutations:
  • Translocation,
  • Inversion
  • synonyms:
  • ld-In2,
  • Fmn<ld-In2>,
  • Fmn<ld-In2>,
  • ld-In2,
  • Is(In)1Gso,
  • Is(17;In2)1Gso,
  • Is/Gso,
  • Is((17;In2)ld, a<j>1Gso,
  • Is((17;In2)ld, a<j>1Gso,
  • Is(In)1Gso,
  • Is1Gso,
  • Is/Gso,
  • Is(17;In2)1Gso,
  • Is1Gso,
  • ld<In2>,
  • Fmn<ld-Is1Gso>,
  • Fmn<ld-Is1Gso>,
  • ld<In2>
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1 Feature

Trail: Allele

Genome

0 Expresses

1 Mutation Involves

Trail: Allele

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

13 Publication categories

Trail: Allele