Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Raxey1
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:	Raxey1 page

Strain of Origin:

ZRDCT/Ch

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

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

5 anatomical structure(s)

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

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)