Rax<ey1> Spontaneous Allele Detail MGI Mouse (MGI:1856862)

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

Phenotypes

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

Expression

In Structures Affected by this Mutation:

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)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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