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Tg(CRYBB1-CRYGC*)#Jfhe
Transgene Detail
Nomenclature
Symbol: Tg(CRYBB1-CRYGC*)#Jfhe
Name: transgene insertion, J Fielding Hejtmancik
MGI ID: MGI:5313507
Synonyms: CRYGC5bpd, OGO2
Transgene: Tg(CRYBB1-CRYGC*)#Jfhe  Location: unknown  
Transgene
origin
Strain of Origin:  FVB/N
Transgene
description
Transgene Type:    Transgenic (Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
 
Tg(CRYBB1-CRYGC*)#Jfhe expresses 1 gene
 
Mutation detailsThis transgene consists of the chicken betaB1-crystallin promoter followed by the human gammaC-crystallin cDNA with a 5 bp duplication in exon 2 (c.119_123dup), the mouse betaA3/A1-crystallin gene splice site including the last 1055 bp of exon 5, intron 5, and exon 6 and the polyadenylation signal. The 5 bp insertion is predicted to result in an amino acid sequence frameshift that produces a new protein comprised of the first 41 amino acids of CRYGC followed by 62 novel amino acids and a new stop codon. (J:181433)
Phenotypes
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Disease models
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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
References
Original:  J:181433 Ma Z, et al., Overexpression of human gammaC-crystallin 5 bp duplication disrupts lens morphology in transgenic mice. Invest Ophthalmol Vis Sci. 2011 Jul;52(8):5369-75
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory