FVB.129P2-Pde6b⁺ Tyr^c-ch/AntJ

Stock number: 004828
Product name: sighted FVB
Research areas: Dermatology Research, Developmental Biology Research, Mouse/Human Gene Homologs, Sensorineural Research

Description

This strain serves as a control for the Fragile X Syndrome model, FVB.129P2-Fmr1^tm1Cgr/J strain (Stock No. 004624) which are also Fmr1 deficient.

Detailed description

These mice are homozygous for the 129P2/OlaHsd wildtype Pde6b allele and do not suffer from blindness due to retinal degeneration. Mice are pigmented as a result of the homozygosity of the Tyr^c-ch allele. This mutant mouse strain may be useful in studies where a sighted mouse on the FVB background is an appropriate control, such as behavioral studies.

Development

Stock No. 004624 originated on a FVB;129P2 background and was then backcrossed for 11 generations on the FVB background. Upon arrival at The Jackson Laboratory, some Stock No. 004624 mice were selected that no longer carried the Fmr1^tm1Cgr mutant allele and instead carried the 129P2/OlaHsd wildtype Pde6b allele - those mice were used to establish Stock No. 004828.

Allele

Symbol: Pde6b⁺
Name: wild type
MGI accession ID: MGI:2430003
Generation method: Not Applicable
Marker symbol: Pde6b
Marker name: phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide
Marker synonyms: CSNB3; CSNBAD2; GMP-PDEbeta; nmf137; PDEB; r; rd; rd1; rd10; RP40
Chromosome: 5
Strain of origin: Not Applicable
Expressed genes: Pde6b,phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide,mouse, laboratory
Site of expression: Retina.

Allele

Symbol: Tyr^c-ch
Name: chinchilla
MGI accession ID: MGI:1855977
Generation method: Spontaneous
Synonyms: c^ch; c^r
Marker symbol: Tyr
Marker name: tyrosinase
Marker synonyms: ATN; CMM8; Oca1; OCA1A; OCAIA; SHEP3; skc35
Chromosome: 7
Strain of origin: fancier's stock
Molecular note: The mutation in the chinchilla allele was found to be a G-to-A point mutation that results in an amino acid change at position 482 or 464 from alanine to threonine (p.A482T for pre-protein, p.A464T for mature protein).