STOCK Oca2^p Prop1^df/J

Stock number: 001618
Product name: Ames dwarf
Research areas: Dermatology Research, Developmental Biology Research, Endocrine Deficiency Research, Immunology, Inflammation and Autoimmunity Research, Mouse/Human Gene Homologs, Neurobiology Research

Description

These mice carry the pink-eyed dilution allele and a spontaneous mutation at the Prop1 locus that is characterized by growth retardation.

Detailed description

Mice homozygous for the Ames dwarf spontaneous mutation (Prop1^df) resemble mice homozygous for the Snell's dwarf mutation (Pit1^dw). Homozygous Ames dwarf mutant mice show growth retardation after the first postnatal week, and weight at 2 months is only about one-half normal. Females and most males are sterile. There is no detectable growth hormone or prolactin. Ames dwarf mice have a secondary immune deficiency presumably resulting from the lack of growth hormone.

Allele

Symbol: Oca2^p
Name: pink-eyed dilution
MGI accession ID: MGI:1856114
Generation method: Spontaneous
Synonyms: p; R262X
Marker symbol: Oca2
Marker name: oculocutaneous albinism II
Marker synonyms: BEY; BEY1; BEY2; BOCA; D15S12; D7H15S12; EYCL; EYCL2; EYCL3; HCL3; P; PED; SHEP1
Chromosome: 7
Strain of origin: Asiatic fancy mice
Molecular note: A nonsense substitution was identified to account for the phenotype. It is a C-to-T substitution in exon 7 in the codon for the 262nd amino acid of the OCA2 protein (p.R262*).
General note:

Oca2^p is a very old mutation carried in many varieties of fancy mice (J:12958). It has been suggested that the original mutation occurred in Japanese wild mice, Mus musculus molossinus (J:19782).

Allele

Symbol: Prop1^df
Name: Ames dwarf
MGI accession ID: MGI:1856842
Generation method: Spontaneous
Synonyms: Ames^df; df; DW; Prop1^-
Marker symbol: Prop1
Marker name: paired like homeodomain factor 1
Marker synonyms: CPHD2; Prop-1; prophet of Pit1; prophet of Pit-1
Chromosome: 11
Strain of origin: Goodale large mice x pink-eyed stock
Molecular note: A T-to-C mutation results in a serine to proline substitution at position 83 (p.S83P) within the alpha1 helix in the homeodomain of the encoded peptide.
General note: The Ames dwarf mutation arose spontaneously in descendants of a cross of the Goodale large mouse stock to a pink-eyed stock.