A 3.6 kb transgene replaced a large genomic segment (at least 36 kb) including exons 20-22, and disrupted a regulatory element that affects the expression of the downstream Grem1 gene. The deletion overlaps an 11 kb interval involved in two other limb deformity alleles: the Fmn1ld-TgHD insertion/deletion and the Fmn1ld-Is(17;In2)1Gso chromosomal rearrangement. This mutation was determined by complementation analyses to be allelic to Fmn1ld-TgHD, Grem1ld, and Grem1ld-J. The transgene contains 1.1 kb of 5' flanking sequence from the rat myelin protein zero gene (Mpz) fused to a mutant simian virus 40 early region sequence (tsA-1609). Ribonuclease protection assays suggest that isoform IV transcripts produced by the 3' region of this allele are disrupted. No differences were detected between mutant and wild-type transcripts produced by the 5' and central regions of the gene. (J:1741, J:38417)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C57BL/6 x SJL)F2
--
Deletion, Insertion
Recessive
1
--
7

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

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PMID
Journal
Year
IF
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