Rax^ey1
Spontaneous Allele Detail

Summary

• Symbol: Rax^ey1
• Name: retina and anterior neural fold homeobox; eyeless 1
• MGI ID: MGI:1856862
• Synonyms: An, anophthalmia, anophthalmic, ey, ey1, ZRDCT-An
• Gene: Rax Location: Chr18:66067710-66072160 bp, - strand Genetic Position: Chr18, 39.03 cM
• Alliance: Rax^ey1 page

Mutation origin

• Strain of Origin: ZRDCT/Ch

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: An A-to-T transversion at coding nucleotide 28 (c.28A>T) results in a methionine to leucine amino acid substitution at position 10 of the encoded protein (p.M10L). The mutation affects a conserved AUG codon that functions as an alternative translation initiation site and consequently reduces the abundance of protein. The mutation does not destabilize mRNA. (J:71979)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

5 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 Rax Mutation: 16 strains or lines available

References

• Original: J:229 Chase HB, Studies on an Anophthalmic Strain of Mice. IV. a Second Major Gene for Anophthalmia. Genetics. 1944 May;29(3):264-9
• All: 31 reference(s)