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Vax2tm1Sba
Targeted Allele Detail
Nomenclature
Symbol: Vax2tm1Sba
Name: ventral anterior homeobox 2; targeted mutation 1, Sandro Banfi
MGI ID: MGI:2159246
Synonyms: Vax2-
Gene: Vax2  Location: Chr6:83711264-83738313 bp, + strand  Genetic Position: Chr6, 35.94 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:74241
Parent Cell Line:  AB2.1 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprtb-m2
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA PGK-neomycin cassette replaced the second exon, which encodes the first two helices and part of the third helix of the homeodomain. Gene targeting was confirmed by RT-PCR analysis. (J:74241)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 23 assay results
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Vax2 Mutation:  9 strains or lines available
Notes
Vax2 heterozygotes are fertile, viable and inditiguishable from wild-type. The homozygous mutant embryo shows incomplete closure of the optic fissure leading to coloboma and abnormal projection of the retinal ganglions. Teh mutant was carried on both a mixed 129/CD1 and a mixed 129/C57Bl6 background.
References
Original:  J:74241 Barbieri AM, et al., Vax2 inactivation in mouse determines alteration of the eye dorsal-ventral axis, misrouting of the optic fibres and eye coloboma. Development. 2002 Feb;129(3):805-13
All:  3 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
09/20/2016
MGI 6.05
The Jackson Laboratory