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. (J:10399, J:38417, J:43337)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C3H/Rl x 101/Rl)F1
Radiation induced
Inversion, Translocation
Recessive
1
--
10

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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