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Hbegftm2Mek
Targeted Allele Detail
Nomenclature
Symbol: Hbegftm2Mek
Name: heparin-binding EGF-like growth factor; targeted mutation 2, Eisuke Mekada
MGI ID: MGI:2682958
Synonyms: HBuc
Gene: Hbegf  Location: Chr18:36504927-36515805 bp, - strand  Genetic Position: Chr18, 19.46 cM
Enlarged heart with fibrosis and poor left ventricular contraction in Hbegftm2Mek/Hbegftm2Mek mice

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

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:86547
Parent Cell Line:  TT2 (ES Cell)
Strain of Origin:  (C57BL/6NCrlj x CBA/JNCrlj)F1
Mutation
description
Allele Type:    Targeted
Mutation:    Insertion
 
Mutation detailsPoint mutations were introduced in the cDNA sequence which transformed the amino acids residues at positions 148-149 from Leu-Pro to Ser-Thr. The modified cDNA sequence was then fused to the start codon of exon 1 along with IRES, a neomycin resistance gene and a polyadenylation sequence. It is predicted that the resulting product would not be cleavable to release the soluble form of the protein. (J:86547)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 9 anatomical structures
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 Hbegf Mutation:  18 strains or lines available
References
Original:  J:86547 Yamazaki S, et al., Mice with defects in HB-EGF ectodomain shedding show severe developmental abnormalities. J Cell Biol. 2003 Nov 10;163(3):469-75
All:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
04/13/2021
MGI 6.16
The Jackson Laboratory