Rs1^tmgc1
Chemically induced Allele Detail

Summary

• Symbol: Rs1^tmgc1
• Name: retinoschisis (X-linked, juvenile) 1 (human); Tennessee Mouse Genome Consortium 1
• MGI ID: MGI:2448640
• Synonyms: 44TNJ
• Gene: Rs1 Location: ChrX:159551009-159582659 bp, + strand Genetic Position: ChrX, 73.95 cM
• Alliance: Rs1^tmgc1 page

Mutation origin

• Strain of Origin: C57BL/6JRn

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This phenotypic mutant was identified in an ENU mutagenesis screen. A T to C transition at the second base of intron 2 led to two novel splice variants. One mutant transcript contains a 10 bp deletion while the other has a 26 bp deletion, both leading to a frameshift mutation. (J:99982)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

10 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 Rs1 Mutation: 6 strains or lines available

References

• Original: J:81149 The Tennessee Mouse Genome Consortium, Targeted mutagenesis of the mouse genome and neural phenotypes. MGI Direct Data Submission. 2003
• All: 5 reference(s)