Lmna^em1Fenz
Endonuclease-mediated Allele Detail

Summary

• Symbol: Lmna^em1Fenz
• Name: lamin A; endonuclease-mediated mutation 1, Fenping Zheng
• MGI ID: MGI:7518551
• Synonyms: Lmna^R133L
• Gene: Lmna Location: Chr3:88388455-88413842 bp, - strand Genetic Position: Chr3, 38.84 cM
• Alliance: Lmna^em1Fenz page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Arginine codon 133 (CGG) in exon 2 was changed to leucine (CTG) (p.R133L) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the same human mutation associated with atypical progeria syndrome (APS). (J:338760)

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  Disease Model	Lmna^em1Fenz/Lmna^+	C57BL/6-Lmna^em1Fenz

Phenotypes:

Affected Systems	ht1
show or hide all annotated terms Sex:
adipose tissue	N	√
adipose tissue phenotype	N	N
increased brown adipose tissue mass		√
abnormal inguinal fat pad morphology		√
increased renal fat pad weight		√
increased abdominal fat pad weight		√
decreased white adipose tissue mass		√
cellular		√
abnormal respiratory electron transport chain		√
growth/size/body		√
increased body weight		√
homeostasis/metabolism		√
increased circulating cholesterol level		√
increased circulating LDL cholesterol level		√
increased circulating alanine transaminase level		√
increased circulating alkaline phosphatase level		√
increased circulating aspartate transaminase level		√
impaired glucose tolerance		√
insulin resistance		√
increased liver triglyceride level		√
liver/biliary system		√
increased liver triglyceride level		√
hepatic steatosis		√

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

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	ht1
progeria IDs progeria       DOID:3911 ICD10CM:E34.8 MESH:D011371 NCI:C34951 OMIM:176670 ORDO:740 UMLS_CUI:C0033300 Close	√

Expression

In Structures Affected by this Mutation:

7 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:338760 Qiu R, et al., Mice harboring a R133L heterozygous mutation in LMNA exhibited ectopic lipid accumulation, aging, and mitochondrial dysfunction in adipose tissue. FASEB J. 2023 Feb;37(2):e22730
• All: 1 reference(s)