Fbn1-C1041G

Nomenclature

C57BL/6Smoc-Fbn1em1(C1041G)Smoc

Cat. NO.

NM-KI-200303

Strain State

Repository Live

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Gene Summary

Gene Symbol
Fbn1

Synonyms

Tsk; Fib-1; AI536462; B430209H23

NCBI ID

14118

MGI ID

95489

Ensembl ID

ENSMUSG00000027204

Pubmed

Fbn1

Human Ortholog

FBN1

Model Description

These mice carry a C1041G mutation of Fbn1 gene.

Disease Connection

Marfan Syndrome

Phenotype(s)

MGI:3690327

Reference(s)

Judge DP, et al., Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome. J Clin Invest. 2004 Jul;114(2):172-81

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