STOCK Dll3^pu + Tyr^c-ch/+ Oca2^p Tyr^c-ch/J

Stock number: 000306
Research areas: Dermatology Research, Developmental Biology Research, Mouse/Human Gene Homologs, Neurobiology Research

Detailed description

This stock carries three linked mutations on Chromosome 7, Dll3^pu (pudgy), Tyr^c-ch (chinchilla), and Oca2^p (pink-eyed dilution).

Development

Pudgy (Dll3^pu) arose in the descendants of an x-rayed (101/Rl x C3H/Rl)F1 male from the specific locus experiments at Oak Ridge National Laboratory prior to 1961. It is located on Chromosome 7 linked to pink eyed dilution (Oca2^p) and chinchilla (Tyr^c-ch). The pudgy stock with Oca2^p and Tyr^c-ch was imported into The Jackson Laboratory from Dr. L.B. Russell at Oak Ridge in 1961. It was maintained as a close (not inbred) stock by mating Dll3^pu + Tyr^c-ch/Dll3^pu + Tyr^c-ch males to + Oca2^p Tyr^c-ch/+ Oca2^p Tyr^c-ch females in one generation followed by Dll3^pu + Tyr^c-ch/+ Oca2^p Tyr^c-ch matings the next generation until 1983 and then it was sibling mated using the same alternating generations. It was cryopreserved in 1983 using Dll3^pu + Tyr^c-ch/+ Oca2^p Tyr^c-ch males x Dll3^pu + Tyr^c-ch/+ Oca2^p Tyr^c-ch or untested females at F13.

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; SLC13B1
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: Dll3^pu
Name: pudgy
MGI accession ID: MGI:1857008
Generation method: Radiation induced
Synonyms: pu
Marker symbol: Dll3
Marker name: delta like canonical Notch ligand 3
Marker synonyms: SCDO1
Chromosome: 7
Strain of origin: (101/Rl x C3H/Rl)F1
Molecular note: Sequencing of Dll3 shows that Dll3^pu mutants have a 4 bp deletion in the third exon leading to a frameshift and early truncation of the expected Dll3 product ahead of the conserved DSL domain.
General note: The pudgy mutation appeared in descendants of an X-rayed male at the Oak Ridge National Laboratory. (J:14975). It has been suggested that Dll3^pu may be a recurrence of stub (sb), a skeletal mutant now extinct (J:245).

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).