C57BL/6-Opn1mw^em1Sarno/J

Stock number: 031385
Product name: BCM C198R (or Opn1mw*C198R)
Research areas: Developmental Biology Research, Sensorineural Research

Description

This CRISPR/Cas9 generated mutant of the X-linked Opn1mw gene carries a C198R mutation, corresponding to a C203R mutation commonly found in patients with Blue Cone Monochromacy.

Detailed description

CRISPR/cas9 endonuclease mediated genome editing of the X-linked Opn1mw (opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)) gene was used to introduce a thymine to cytosine substitution at amino acid 198, resulting in a cysteine to arginine mutation (C198R), which corresponds to a C203R mutation commonly found in human patients with Blue Cone Monochromacy (BCM). BCM is characterized by reduced visual acuity, pendular nystagmus, and photophobia. Opn1mw encodes a light absorbing visual pigment in cone photoreceptors. Homozygous mice are viable and fertile. These mice may be useful when studying Blue Cone Monochromacy.

Development

Plasmids encoding a signal guide RNA, designed to insert a point mutation in exon 4 of the X-linked opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan) (Opn1mw) gene, and the cas9 nuclease, were microinjected into the pronucleus of fertilized oocytes obtained from superovulated C57BL/6NCrl females. Exon 4 was modified to harbor a thymine to cytosine substitution at amino acid 198, resulting in a cysteine to arginine mutation (C198R), which corresponds to a C203R mutation commonly found in patients with Blue Cone Monochromacy. The resulting chimeric animals were crossed to C57BL/6J mice. Upon arrival, sperm was cryopreserved. To establish our live colony, an aliquot of frozen sperm was used to fertilize C57BL/6J oocytes (Stock No. 000664).

Allele

Symbol: Opn1mw^em1Sarno
Name: endonuclease-mediated mutation 1, Renata Sarno
MGI accession ID: MGI:6108875
Generation method: Endonuclease-mediated
Attributes: Not Applicable
Synonyms: Opn1mw^C198R
Marker symbol: Opn1mw
Marker name: opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)
Marker synonyms: CBBM; CBD; CBP; COD5; G/R opsin; Gcp; GOP; green long wavelength sensitive cone opsin; green LWS cone opsin; Green opsin; M opsin; Midwavelength sensitive opsin; ML-opsin; MWS opsin; Opn1lw; OPN1MW1; R/G opsin; RCP; ROP; Rsvp
Chromosome: X
Strain of origin: C57BL/6NJ
Molecular note: Plasmids encoding a signal guide RNA are designed to insert a point mutation in exon 4 of the gene. Exon 4 was modified to harbor a tyrosine to cytosine substitution at amino acid 198 (C198R), which corresponds to a C203R mutation commonly found in patients with Blue Cone Monochromacy.