Lmna^tm4Lgf
Targeted Allele Detail

Summary

• Symbol: Lmna^tm4Lgf
• Name: lamin A; targeted mutation 4, Loren G Fong
• MGI ID: MGI:3837135
• Synonyms: Lmna^ggHG
• Gene: Lmna Location: Chr3:88388455-88413842 bp, - strand Genetic Position: Chr3, 38.84 cM
• Alliance: Lmna^tm4Lgf page

Rib fractures in Lmna^tm4Lgf/Lmna⁺ and Lmna^tm1Lgf/Lmna⁺ mice

Show the 2 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:146099
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

Allele Type: Targeted (Null/knockout) Mutations: Insertion, Intragenic deletion, Single point mutation Mutation details: Introns 10 and 11 and the last 150 nucleotides of exon 11 were deleted, thereby abolishing production of lamin C and producing a mutated prelamin A that precludes wild-type Lmna synthesis. A point mutation in exon 12 resulted in the amino acid substitution of leucine for methionine within the CaaX motif. This substitution triggers protein geranylgeranylation. A floxed neo cassette downstream of exon 12 was used for selection. (J:146099)

Generation of the Lmna^tm4Lgf allele

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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ht1	Lmna^tm4Lgf/Lmna^+	involves: 129P2/OlaHsd * C57BL/6

Phenotypes:

Affected Systems	ht1
show or hide all annotated terms
cellular	√
abnormal cell nucleus morphology	√
growth/size/body	√
decreased body weight	√
mortality/aging	√
premature death	√
skeleton	√
rib fractures	√

View phenotypes and curated references for all genotypes (concatenated display).

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

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 Lmna Mutation: 84 strains or lines available

References

• Original: J:146099 Davies BS, et al., Increasing the length of progerin's isoprenyl anchor does not worsen bone disease or survival in mice with Hutchinson-Gilford progeria syndrome. J Lipid Res. 2009 Jan;50(1):126-34
• All: 1 reference(s)