Six3^tm3Gco
Targeted Allele Detail

Summary

• Symbol: Six3^tm3Gco
• Name: sine oculis-related homeobox 3; targeted mutation 3, Guillermo Oliver
• MGI ID: MGI:3814869
• Synonyms: Six3^cki, Six3V250
• Gene: Six3 Location: Chr17:85921036-85933619 bp, + strand Genetic Position: Chr17, 55.42 cM
• Alliance: Six3^tm3Gco page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:140315
• Parent Cell Line: W9.5/W95 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change)
• Mutation: Insertion
• Mutation details: A single bp transition (T749C) was introduced into the first exon. This causes a valine to alanine change at amino acid residue 250. In addition, a floxed cassette containing a stop codon and a neomycin resistance gene was inserted upstream of the first exon thus inactivating the knocked-in mutation. (J:140315)

Disease models

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 Six3 Mutation: 13 strains or lines available

References

• Original: J:140315 Geng X, et al., Haploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephaly. Dev Cell. 2008 Aug;15(2):236-47
• All: 1 reference(s)