Fmn1^ld-TgHD
Transgenic Allele Detail

Summary

• Symbol: Fmn1^ld-TgHD
• Name: formin 1; limb deformity TgHD
• MGI ID: MGI:1856291
• Synonyms: ld^H, ld^Hd, ld^TgHd
• Gene: Fmn1 Location: Chr2:113158081-113547112 bp, + strand Genetic Position: Chr2, 57.3 cM, cytoband C1-qter
• Alliance: Fmn1^ld-TgHD page

Transgene origin

• Strain of Origin: (CD-1 x C57BL/6)F1

Transgene description

• Transgene Type: Transgenic
• Mutations: Deletion, Insertion, Intergenic deletion
• Fmn1^ld-TgHD involves 1 genes/genome features (Fmn1) View all
• Mutation details: Insertion of multiple copies of a transgene containing a mouse mammary tumor virus long terminal repeat linked to a myc gene disrupted the gene. The insertion is accompanied by a small genomic deletion (~1-1.5 kb), and is located distal to cytogenetic band C1, near the 3' end of the gene in the intron preceding exon 20. This allele disrupts a regulatory element that affects the expression of the downstream Grem1 gene. This mutation was determined through complementation analyses to be allelic with Fmn1^ld-TgBri137, Grem1^ld, and Grem1^ld-J. (J:1741, J:8077, J:38417)
• Inheritance: Recessive

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: 76 strains or lines available

Notes

Mutant mice display severe dysmorphism of all four limbs, oligodactyly and syndactyly of the digits, fusion of some carpals, metacarpals, tarsals, and metatarsals, and some have kidney defects. The axial skeleton appears unaffected. Some adults are fertile.

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 Fmn^{ld-Is(17;In2)1Gso} mutation, with one common set being abolished (J:22162). Five isoform sets of the protein transcribed from cDNA sequences were used to evaluate protein isoforms expressed in the various mutants. The absence of isoform IV in Fmn1^ld-TgHD homozygous cells made an assay for endogenous formin possible. This was used to show absence of isoform IV in homozygotes for Fmn^ld-TgBri137 also.

References

• Original: J:8077 Woychik RP, et al., An inherited limb deformity created by insertional mutagenesis in a transgenic mouse. Nature. 1985 Nov 7-13;318(6041):36-40
• All: 9 reference(s)