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Phenotypes Associated with This Genotype
Genotype
MGI:6258677
cn5
Allelic
Composition
Acvr2atm1Hsch/Acvr2atm1Hsch
Bmpr2tm1.1Enl/Bmpr2tm1.1Enl
Tg(Tyr-cre)1Lru/Y
Genetic
Background
involves: 129S1/Sv * 129S4/SvJae * C57BL/6 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvr2atm1Hsch mutation (0 available); any Acvr2a mutation (39 available)
Bmpr2tm1.1Enl mutation (1 available); any Bmpr2 mutation (46 available)
Tg(Tyr-cre)1Lru mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation
• male pups show a dramatic hypopigmentation of the hair coat
• gray-haired skin shows normal melanocyte distribution but substantially less melanin in the hair follicles than control skin
• a reduction in melanin is noted in the hair bulb, where melanocytes form a conical cluster
• a reduction in melanin is noted in the hair shaft
• male pups develop uniformly gray coats; gray hair develops during the first period of hair production
• melanocytes of gray-haired skin produce numerous, dakly-pigmented miniaturized melanosomes, indicating impaired melanosome growth with no significant reduction in melanosome number or pigment-making ability
• failure of melanosomes to grow leads to less production/accumulation of melanin per melanosome
• miniaturized melanosomes are still transferred to epithelial cells of the hair shaft but hair shafts receive less pigment in total, resulting in hypopigmentation and gray color

integument
• male pups show a dramatic hypopigmentation of the hair coat
• gray-haired skin shows normal melanocyte distribution but substantially less melanin in the hair follicles than control skin
• a reduction in melanin is noted in the hair bulb, where melanocytes form a conical cluster
• a reduction in melanin is noted in the hair shaft
• male pups develop uniformly gray coats; gray hair develops during the first period of hair production


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/17/2024
MGI 6.24
The Jackson Laboratory