B10.129P3-H1^b Tyr^c Hbb^d/(5M)nSnJ

Stock number: 000418
Product name: B10.129(5M)/nSn
Research areas: Dermatology Research, Hematological Research, Immunology, Inflammation and Autoimmunity Research, Mouse/Human Gene Homologs

Detailed description

This B10 congenic strain carries H1^b, Tyr^c, and Hbb^d from 129/Rr.

Development

This is one of the “Congenic Resistant” strains of mice developed by George D. Snell in his studies of histocompatibility. [Snell, G.D. 1978. In Origins of Inbred Mice (H.C. Morse III, ed.). Academic Press, New York.]

Strain B10.129(5M)nSn was derived from an initial cross between C57BL/10ScSn and 129/Rr (antecedent of the current 129P3/J, Stock No. 000690) and developed into a congenic strain by a cross-intercross system resulting in the equivalent of 11 generations of backcross to C57BL/10ScSn before being maintained by sib matings. Embryos were cryopreserved in 1989 at generation NE11F63.

Allele

Symbol: Hbb^d
Name: d
MGI accession ID: MGI:1858119
Generation method: Not Applicable
Marker symbol: Hbb
Marker name: hemoglobin beta chain complex
Chromosome: 7
Strain of origin: BALB/c

Allele

Symbol: Tyr^c
Name: albino
MGI accession ID: MGI:1855976
Generation method: Spontaneous
Synonyms: c
Marker symbol: Tyr
Marker name: tyrosinase
Marker synonyms: ATN; CMM8; Oca1; OCA1A; OCAIA; SHEP3; skc35
Chromosome: 7
Strain of origin: old mutant of the mouse fancy
Site of expression: Melanocytes.
Molecular note: The specific mutation in the albino allele is a G-to-C transversion causing an amino acid change from cysteine to serine at position 103 or 85 (p.C103S for pre-protein, p.C85S for mature protein). This mutation introduces a DdeI enzyme restriction site.
General note: Tyr^c, albino. This very old mutant was already known in Greek and Roman times. Hair and eyes are completely devoid of pigment (J:5436, J:5001, J:30725). The albino mutation affects the amount of tyrosinase, and thus of melanin, in pigment cells, but does not interfere with the production of pigment cells themselves (J:12173, J:13092). Melanocytes with melanosomes showing normal fine structure occur in the retina and hair follicles. Pigment granules are smaller and fewer than normal and completely lack melanin (J:5346, J:5001, J:30725). Tyrosinase is almost absent (J:12173). Although Tyr is the structural gene for tyrosinase, some albino mutations may affect tyrosinase enzyme regulation rather than structure (J:6611), suggesting that these mutations affect tyrosinase inhibition (J:5346), presumably via control regions of the gene. All the mutant alleles are recessive to wild-type in phenotype, but heterozygotes with wild-type produce intermediate amounts of tyrosinase (J:12173). Albino-locus mutants with lightly pigmented eyes have a reduced number of fibers of the optic nerve going to the ipsilateral lateral geniculate nucleus of the brain. This is probably a secondary effect of reduced tyrosinase activity or amount of pigment in the pigment epithelium, since genes at other loci that reduce eye pigmentation also cause the same anomaly (J:5436, J:6064). Abnormal retinal pathways disrupted at the optic chiasm that occur in albinism can be corrected with a Tyr normal transgene (J:22320). Lipofuscin is a terminal oxidation product pigment that accumulates with age. In a cross of C57BL/6J and BALB/cJ, which differ in cardiac deposition of the pigment, this trait segregated with albinism, and is controlled by the Tyr locus (J:15460). Tyrc homozygotes do not perform as well as normal in a number of behavioral tests. It is likely that this effect is mediated, at least in part, by defective vision resulting from lack of retinal pigment (J:5470, J:5360, J:5378).

Allele

MGI accession ID: MGI:95882
Marker symbol: H1
Marker name: histocompatibility 1
Marker synonyms: H-1
Chromosome: 7