Grxcr1^pi-2J
Spontaneous Allele Detail

Summary

• Symbol: Grxcr1^pi-2J
• Name: glutaredoxin, cysteine rich 1; pirouette 2 Jackson
• MGI ID: MGI:3027304
• Gene: Grxcr1 Location: Chr5:68189178-68323741 bp, + strand Genetic Position: Chr5, 36.59 cM
• Alliance: Grxcr1^pi-2J page

Mutation origin

• Strain of Origin: DBA/2J

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: Genomic PCR demonstrated a deletion with a maximum size of approximately 200 kb that includes exon 1, nearly 125 kb of upstream sequence, and the majority of intron 1. The deletion breakpoint in intron 1 is within 12 kb of exon 2. (J:156811)
• Inheritance: Recessive

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Grxcr1 Mutation: 23 strains or lines available

References

• Original: J:156811 Odeh H, et al., Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse. Am J Hum Genet. 2010 Feb 12;86(2):148-60
• All: 2 reference(s)