Chm^tm1Jvdh
Targeted Allele Detail

Summary

• Symbol: Chm^tm1Jvdh
• Name: CHM Rab escort protein; targeted mutation 1, Jose A J M van den Hurk
• MGI ID: MGI:3052865
• Synonyms: Chm^-
• Gene: Chm Location: ChrX:111950290-112095214 bp, - strand Genetic Position: ChrX, 48.94 cM
• Alliance: Chm^tm1Jvdh page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:40673
• Parent Cell Line: E14 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: Exon 8 was disrupted by the insertion of a neomycin resistance gene in the opposite transcriptional orientation to the endogenous gene. Southern blot confirmed recombination in ES cells. (J:40673)

Disease models

Expression

In Structures Affected by this Mutation:

4 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 Chm Mutation: 14 strains or lines available

References

• Original: J:40673 van den Hurk JA, et al., Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline. Hum Mol Genet. 1997 Jun;6(6):851-8
• All: 3 reference(s)