Arhgap6/Hccs/Mid1^tm1Hzo
Targeted Allele Detail

Summary

• Symbol: Arhgap6/Hccs/Mid1^tm1Hzo
• Name: holocytochrome c synthetase; targeted mutation 1, Huda Y Zoghbi
• MGI ID: MGI:3580072
• Synonyms: MLS^2loxP
• Gene: Hccs Location: ChrX:168094526-168103361 bp, - strand Genetic Position: ChrX, 78.98 cM
• Alliance: Arhgap6/Hccs/Mid1^tm1Hzo page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:80528
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S7/SvEvBrd

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change)
• Mutation: Insertion
• Mutation details: The gene was replaced by a puromycin resistance gene and a loxP site in ES cells in which Arhgap6 had already been subjected to targeted mutation to replace exons 6, 7, and 8 with a neomycin resistance cassette and a loxP site. The two loxP sites are situated so that cre excision eliminates both resistance genes and all intervening DNA. All of Mid1, the entire Hccs gene, and all of Arhgap6 3' of exon 5 are thus conditionally deleted. (J:80528)

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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 Hccs Mutation: 4 strains or lines available

References

• Original: J:80528 Prakash SK, et al., Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant micro-phthalmia with linear skin defects (MLS) syndrome. Hum Mol Genet. 2002 Dec 1;11(25):3237-48
• All: 1 reference(s)