|
Allele Symbol Allele Name Allele ID |
a nonagouti MGI:1855937 |
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| Summary |
134 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• total cortex and x-zone of adrenal cortex are of similar thickness to Aw/a or Aw/ Aw 70-day old virgin mice
• X-zone is composed exclusively of non-vacuolated cells
• zona glomerulosa, zona fasciculata, and zona reticularis are morphologically similar between genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• hairs lack the yellow pigment band found in the wild-type agouti black coat
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• hairs are black except for yellow hairs around ears, mammae, and perineum
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• hairs lack the yellow pigment band found in the wild-type agouti black coat
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• hairs are black except for yellow hairs around ears, mammae, and perineum
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• at 3-4 weeks of age, mice of this genotype have more yellow-banded agouti hair on their sides than do homozygous non-agouti mice
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• at 3-4 weeks of age, a paler ventrum distinguishes this genotype from homozygous non-agouti or mice
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• at 3-4 weeks of age, mice of this genotype have more yellow-banded agouti hair on their sides than do homozygous non-agouti mice
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• at 3-4 weeks of age, a paler ventrum distinguishes this genotype from homozygous non-agouti or mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Ay/a mouse
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• the stress of isolation, restraint, or ip injection inhibits feeding
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• tyrosinase levels in hairbulb melanocytes ,as determined by 35S methionine incorporation and immunotitration, are reduced in comparison to a/a controls
• decreased tyrosinase suggests the production of predominantly phaeomelanin (yellow)
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• tyrosinase levels in hairbulb melanocytes ,as determined by 35S methionine incorporation and immunotitration, are reduced in comparison to a/a controls
• decreased tyrosinase suggests the production of predominantly phaeomelanin (yellow)
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• with a, coat is nonagouti on the back with dark agouti belly
and pinna hairs are yellow
• with at, coat is nonagouti on the back with tan belly and pinna hairs are yellow
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• with a, coat is nonagouti on the back with dark agouti belly
and pinna hairs are yellow
• with at, coat is nonagouti on the back with tan belly and pinna hairs are yellow
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• dark or sooty yellow due to black tips on otherwise yellow hair
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• dark or sooty yellow due to black tips on otherwise yellow hair
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• the first coat has a tan belly with agouti hairs among the mostly black hairs on the side of the body, and after the first molt the agouti hairs spread over the back so that the back appears to be a darkened agouti color, instead of black
• appearance resembles Aw/?
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• the first coat has a tan belly with agouti hairs among the mostly black hairs on the side of the body, and after the first molt the agouti hairs spread over the back so that the back appears to be a darkened agouti color, instead of black
• appearance resembles Aw/?
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• the ventral and flank coat is agouti instead of the expected non-agouti black
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• the ventrum is white or "light"
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• the ventral and flank coat is agouti instead of the expected non-agouti black
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• the ventrum is white or "light"
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• the ventrum and flank coat is agouti
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• the ventrum is white or "light"
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• the ventrum and flank coat is agouti
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• the ventrum is white or "light"
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice heterozygous for this targeted reversion to agouti on an otherwise normal C57BL/6N background have uniformly agouti coats, the hairs on both dorsum and ventrum having a subapical yellow band; this differs from the phenotype of a spontaneous revertant of nonagouti that occurred in C57BL/6J, Aw-J, which results in a light- or white-bellied agouti coat
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| N |
• mice heterozygous for this targeted reversion to agouti on an otherwise normal C57BL/6N background have uniformly agouti coats, the hairs on both dorsum and ventrum having a subapical yellow band; this differs from the phenotype of a spontaneous revertant of nonagouti that occurred in C57BL/6J, Aw-J, which results in a light- or white-bellied agouti coat
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice bearing this mutation on the C57BL/6NTac background exhibit a change in coat pigmentation from the characteristic black of the background strain to the wild-type agouti pattern, i.e., black and yellow banding of individual hairs.
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• mice bearing this mutation on the C57BL/6NTac background exhibit a change in coat pigmentation from the characteristic black of the background strain to the wild-type agouti pattern, i.e., black and yellow banding of individual hairs.
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| N |
• mice bearing this mutation on the C57BL/6NTac background exhibit a change in coat pigmentation from the characteristic black of the background strain to the wild-type agouti pattern, i.e., black and yellow banding of individual hairs.
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• with nonagouti the coat color is umbrous with yellow pinna hairs
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• pinna hairs are yellow, unexpected for this genotype
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• with nonagouti the coat color is umbrous with yellow pinna hairs
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• pinna hairs are yellow, unexpected for this genotype
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• nonagouti
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• nonagouti
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• umbrous-like
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• umbrous-like
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• the coat is slightly paler than that of a homozygous non-agouti coat
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• the coat is slightly paler than that of a homozygous non-agouti coat
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• Background Sensitivity: there is a continuum of color pattern ranging from all black indistinguishable from mice with a ae genotype, see ae , to degrees of yellow mottling on a black background, to mice with an agouti coat color pattern
(J:5964)
• Background Sensitivity: the genetic background of the mother influences the coat pattern of the offspring
(J:5964)
• mice are mottled with agouti and nonagouti patches of fur with hairs of both types intermingled at the pattern edges
(J:29504)
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• matings of genotype am/a to a/a mice produce about 50% mottled offspring
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• Background Sensitivity: there is a continuum of color pattern ranging from all black indistinguishable from mice with a ae genotype, see ae , to degrees of yellow mottling on a black background, to mice with an agouti coat color pattern
(J:5964)
• Background Sensitivity: the genetic background of the mother influences the coat pattern of the offspring
(J:5964)
• mice are mottled with agouti and nonagouti patches of fur with hairs of both types intermingled at the pattern edges
(J:29504)
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• matings of genotype am/a to a/a mice produce about 50% mottled offspring
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• the genetic background of the mother influences the coat pattern of the offspring
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• nonagouti
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• nonagouti
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|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Spectrum of coat colors in Avy/a mice
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• variable coat color ranging from yellow, mosaic yellow/agouti, or pseudoagouti
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• variable coat color ranging from yellow, mosaic yellow/agouti, or pseudoagouti
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• sires mated with a/a dams, but not dams mated with a/a sires, that were supplemented with methyl donors ((folate, choline, betaine, vitamin B12, zinc, and methionine) during pregnancy show a significant shift in the spectrum of color phenotypes toward pseudoagouti, indicating that in utero methyl donor supplementation affects the somatic epigenetic state of the Avy allele only when the allele is derived from the male
• F1 pseudoagouti females that had been exposed to methyl donors in utero from E8.5 to E15.5 and mated to a/a males without further methyl donor supplementation, produce offspring (F2) showing a sift toward pseudoagouti coloration, indicating that diet/environment has an enduring influence on succeeding generations, independent of later changes in diet
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| obesity | DOID:9970 |
OMIM:601665 |
J:13142 , J:117156 | |
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|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• found in both heterozygotes and homozygotes and ranges in color from almost extreme non-agouti with little ticking to full agouti with no mottling
|
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• found in both heterozygotes and homozygotes and ranges in color from almost extreme non-agouti with little ticking to full agouti with no mottling
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• the genetic background indicates the mouse should be non-agouti black however the dorsal coat is agouti
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• the ventrum is cream to white not non-agouti black as inferred from the strain background
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• the genetic background indicates the mouse should be non-agouti black however the dorsal coat is agouti
|
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• the ventrum is cream to white not non-agouti black as inferred from the strain background
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• the genetic background indicates the mouse should be non-agouti black however the dorsal coat is agouti
|
|
• the ventrum is cream to white not non-agouti black as inferred from the strain background
|
|
• the genetic background indicates the mouse should be non-agouti black however the dorsal coat is agouti
|
|
• the ventrum is cream to white not non-agouti black as inferred from the strain background
|
|
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• this allele is heavily methylated in the sperm of agouti colored males but hypomethylated in the sperm of yellow males
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• the genetic background indicates the mouse should be non-agouti black however the dorsal coat is agouti
|
|
• the ventrum is cream to white not non-agouti black as inferred from the strain background
|
|
• the genetic background indicates the mouse should be non-agouti black however the dorsal coat is agouti
|
|
• the ventrum is cream to white not non-agouti black as inferred from the strain background
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• blood glucose levels increase with age in both sexes
• marked hyperglycemia (400-500 mg/dl) develops by 16 weeks of age
|
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• markedly elevated plasma immunoreactive insulin (IRI) level increases with age
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• present at all ages tested (5, 10, 16 weeks) and in both sexes
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• insulin sensitivity is impaired at 10 weeks and lost by 16 weeks
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• lipogenesis from acetate is elevated at 5 weeks of age, the enhanced activity is maintained until 16 weeks of age
• the acetate/glucose ratio is higher than control in young mice
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• adipose tissue weight increases with age, reaching a maximum at 10 weeks of age
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• greater body weight gain occurs in females as compared to black KK controls
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• islets are hypertrophic in 10-16 week old mice
• central cavity formation with occasional red blood cells is observed in islets
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• beta cells are degranulated
• degranulated islets are infiltrated with fine glycogen granules
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• present at all ages tested (5, 10, 16 weeks) and in both sexes
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• basement membrane of Bowman's capsules is thickened
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• some glomeruli exhibit an accumulation of eosinophilic material in the outer parts of the capillary
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• mesangial matrix is thickened
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• basement membrane of tubules is thickened
• hyaline materials or hyaline cast is present in tubules
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• hyaline materials or hyaline cast is present in tubules
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| type 2 diabetes mellitus | DOID:9352 |
OMIM:125853 OMIM:601283 OMIM:601407 OMIM:603694 OMIM:608036 |
J:26460 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• total cortex and x-zone of adrenal cortex are of similar thickness to a/a and Aw/ Aw 70-day old virgin mice
• X-zone is composed exclusively of non-vacuolated cells
• 70-day old hybrids of mixed C57BL/6 and SM/J background have non-vacuolated x-zones
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• jet-black appearance is probably equivalent to extreme nonagouti
|
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• jet-black appearance is probably equivalent to extreme nonagouti
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|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• jet-black appearance is probably equivalent to extreme nonagouti
|
|
• jet-black appearance is probably equivalent to extreme nonagouti
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• jet-black appearance is probably equivalent to extreme nonagouti
|
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• jet-black appearance is probably equivalent to extreme nonagouti
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• umbrous-like
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• umbrous-like
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|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice have a black dorsum and white ventrum
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• mice have a white ventrum, the pattern identical to that seen on at/- mice
• mice have a subtle yellow throat patch
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• mice have a black dorsum and white ventrum
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• mice have a white ventrum, the pattern identical to that seen on at/- mice
• mice have a subtle yellow throat patch
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|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• platelet ATP levels are much lower than in C57BL/6J controls
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• platelet ADP levels are much lower than in C57BL/6J controls
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• fewer platelet dense granules than normal
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• less than 7% of normal levels of platelet serotonin
(J:7327)
• platelet serotonin level is also lower than that of control when fed an atherogenic diet
(J:29748)
|
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• platelet ATP levels are much lower than in C57BL/6J controls
|
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• less than 7% of normal levels of platelet serotonin
(J:7327)
• platelet serotonin level is also lower than that of control when fed an atherogenic diet
(J:29748)
|
|
• bleed time averaging over 15 minutes after tail nick is much greater than the 3.8 minutes for C57BL/6J controls
|
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• on an atherogenic diet homozygotes develop fewer aortic lesions and smaller lesions than C57BL/6J controls
• 60% of homozygotes survive to 48 weeks of age on an atherogenic diet, when no C57BL/6J controls survive, and, although there are significant atherosclerotic lesions in these 48 week old homozygotes, the lesions are smaller than those in 39 week old C57BL/6J controls fed the atherogenic diet
|
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• the ipsilateral lateral geniculate nucleus has fewer projections from the retinal ganglion cells
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• there is a reduced number of projections of retinal ganglion cells to the ipsilateral lateral geniculate nucleus
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• there is a reduced number of projections of retinal ganglion cells to the ipsilateral lateral geniculate nucleus
|
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• concentration of lysosomal enzymes is elevated
• decreased rate of secretion of lysosomal enzyme into urine
|
|
• platelet ATP levels are much lower than in C57BL/6J controls
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Hermansky-Pudlak syndrome 6 | DOID:0060544 |
OMIM:614075 |
J:81444 | |
| platelet storage pool deficiency | DOID:2223 |
OMIM:185050 |
J:7327 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 3-fold decreased in total plasma esterases activity compared with B6D2F1
|
|
• 200-fold reduction in SN-38 production after incubation with CPT-11 in vitro
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• slightly darker than in Ay/a mice on the dorsal region
• darker ventral region hair compared with Ay/a mice
|
|
• slightly darker than in Ay/a mice on the dorsal region
• darker ventral region hair compared with Ay/a mice
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• due to clumping of pigment
|
|
• results in clumping rather than even distribution of pigment during hair development
|
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• due to clumping of pigment
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice heterozygous for this inversion on an agouti background have agouti hair coats, but with light-colored ears due to the Krt14-A transgene in the Wnt3 locus.
|
|
• mice heterozygous for this inversion on an agouti background have agouti hair coats, but with light-colored ears due to the Krt14-A transgene in the Wnt3 locus.
|
|
• mice heterozygous for this inversion on an agouti background have agouti hair coats, but with light-colored ears due to the Krt14-A transgene in the Wnt3 locus.
|
|
• mice heterozygous for this inversion on an agouti background have agouti hair coats, but with light-colored ears due to the Krt14-A transgene in the Wnt3 locus.
|
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• mice heterozygous for this inversion on an agouti background have agouti hair coats, but with light-colored tails due to the Krt14-A transgene in the Wnt3 locus.
|
|
• mice heterozygous for this inversion on an agouti background have agouti hair coats, but with light-colored tails due to the Krt14-A transgene in the Wnt3 locus.
|
|
• mice heterozygous for this inversion on an agouti background have agouti hair coats, but with light-colored ears due to the Krt14-A transgene in the Wnt3 locus.
|
|
• mice heterozygous for this inversion on an agouti background have agouti hair coats, but with light-colored tails due to the Krt14-A transgene in the Wnt3 locus.
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• in half of E13.5 embryos examined, parts of the rostral neural tube are not closed properly
|
|
• in half of E13.5 embryos examined, parts of the rostral neural tube are not closed properly
|
|
• incomplete closure of anterior neuropore leads to collapse of lateral ventricles
|
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• noted in lateral ventricles of E16.5 fetuses
|
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• E16.5 fetuses do not show lamination in the cerebral cortex
|
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• noted at E16.5 of gestation
|
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• in some mutants the rostral nueral tube does not close leaving the hindbrain, midbrain, and most of the forebrain exposed
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mutants develop larger atherosclerotic plaques than a/a Apoetm1Unc/Apoetm1Unc mice
• plaques contain a higher proportion of macrophage infiltration
|
|
• increase in the proportion of inflammatory monocytes in the blood, liver, muscle, and kidney, but not epididymal fat pads
|
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• increase in the proportion of inflammatory monocytes in the blood, liver, muscle, and kidney, but not epididymal fat pads
|
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• increase in systemic inflammation
|
|
• mutants develop features of diabetic nephropathy
|
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• mutants exhibit mesangial expansion as indicated by glycogen deposition in the glomeruli
|
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• 20-30% of mutants exhibit nodular sclerosis in the kidney
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| abdominal obesity-metabolic syndrome | DOID:0060611 |
OMIM:PS605552 |
J:177084 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mutants are protected against the metabolic syndrome, atherosclerosis, and diabetic nephropathy that develops in Ay/a Apoetm1Unc double mutants
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• penetrance of fused and viable yellow are independent of each other with double heterozygotes displaying all combinations of coat color and tail phenotypes due to independent variations in penetrance of each
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• in mice treated with diptheria toxin (DT) to specifically ablate NPY-expressing cells
|
|
• in mice treated with diptheria toxin (DT) to specifically ablate NPY-expressing cells
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice have a slightly more yellow coat than agouti controls
|
|
• the phaeomelanin to total melanin ratio is higher (0.30) than in agouti controls (0.19)
|
|
• mice have a slightly more yellow coat than agouti controls
|
|
• the phaeomelanin to total melanin ratio is higher (0.30) than in agouti controls (0.19)
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice have a much more yellow coat than agouti controls
|
|
• the phaeomelanin to total melanin ratio is higher (1.74) than in controls (0.20)
|
|
• mice have a much more yellow coat than agouti controls
|
|
• the phaeomelanin to total melanin ratio is higher (1.74) than in controls (0.20)
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice have a much more yellow coat than agouti controls
|
|
• the phaeomelanin to total melanin ratio is higher (2.00) than in agouti controls (0.19)
|
|
• mice have a much more yellow coat than agouti controls
|
|
• the phaeomelanin to total melanin ratio is higher (2.00) than in agouti controls (0.19)
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice heterozygous for this inversion on a black, non-agouti background are recognizable by their light-colored tails due to the Krt14-A transgene in the Wnt3 locus.
|
|
• mice heterozygous for this inversion on a black, non-agouti background are recognizable by their light-colored tails due to the Krt14-A transgene in the Wnt3 locus.
|
|
• mice heterozygous for this inversion on a black, non-agouti background are recognizable by their light-colored tails due to the Krt14-A transgene in the Wnt3 locus.
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice exhibit a progressively lighter coat color with additional functioning non-agouti allele
• Background Sensitivity: authors state that mice on a 129 or FVB background for more than 6 generation exhibit a qualitatively similar phenotype
|
|
• mice exhibit a progressively lighter coat color with additional functioning non-agouti allele
• Background Sensitivity: authors state that mice on a 129 or FVB background for more than 6 generation exhibit a qualitatively similar phenotype
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice exhibit normal black coat color
• Background Sensitivity: authors state that mice on a C57BL/6 background for more than 6 generation exhibit a qualitatively similar phenotype
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• reorganization of fibrillar melanosomes into particulate melanin granules, such that only 20% of melanosomes in adult retina are fibrillar in nature, the rest are particulate
|
|
• 2% of premelanosomes in the choroid are fused to form giant granules
|
|
• premature termination of melanization of the premelanosome filaments in the retina
|
|
• 2% of premelanosomes in the choroid are fused to form giant granules
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• on a non-agouti background, the coat color of mice heterozygous for DctSlt-lt is dark brown, closely resembling that of Dctslt/Dctslt or Dctslt/DctSlt-lt mice.
|
|
• on a non-agouti background, the coat color of mice heterozygous for DctSlt-lt is dark brown, closely resembling that of Dctslt/Dctslt or Dctslt/DctSlt-lt mice.
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• on a non-agouti background, the fur of mice homozygous for DctSlt-lt is light brown.
|
|
• on a non-agouti background, the fur of mice homozygous for DctSlt-lt is light brown.
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• reorganization of fibrillar melanosomes into particulate melanin granules, such that only 35% of melanosomes in adult retina are fibrillar in nature, the rest are particulate
|
|
• 2% of premelanosomes in the choroid are fused to form giant granules
|
|
• 2% of premelanosomes in the choroid are fused to form giant granules
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• Background Sensitivity: platelet-dense granules and platelet coagulation are normal or near normal unlike on the C3H/HeSnJ background
• Background Sensitivity: concentrations of adenine nucleotides, ADP and ATP, of platelets are only nominally lower than controls and are not significantly different from controls compared to on the C3H/HeSnJ background where levels are depressed
|
|
• Background Sensitivity: platelet-dense granule serotonin levels are somewhat depressed in platelets compared to wild-type, but levels are much greater than on the C3H/HeSnJ background
|
|
• Background Sensitivity: platelet-dense granule serotonin levels are somewhat depressed in platelets compared to wild-type, but levels are much greater than on the C3H/HeSnJ background
|
|
• Background Sensitivity: modest increase in bleeding time to 6.9 minutes from the normal 2.7 minutes, but shorter than on the C3H/HeSnJ background
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Griscelli syndrome type 2 | DOID:0060833 |
OMIM:607624 |
J:77395 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 80% of premelanosomes in the choroid and retina fuse to form giant granules
|
|
• 80% of premelanosomes in the choroid and retina fuse to form giant granules
|
|
• 80% of premelanosomes in the choroid and retina fuse to form giant granules
|
|
• 80% of premelanosomes in the choroid and retina fuse to form giant granules
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• reorganization of fibrillar melanosomes into particulate melanin granules, such that only 5% of melanosomes in the choroid and 60% in the retina are fibrillar in nature, the rest are particulate
|
|
• 80% of premelanosomes in the retina are fused to form giant premelanosomes
|
|
• premelanosome formation in the choroid is delayed until after birth
|
|
• 80% of premelanosomes in the retina are fused to form giant premelanosomes
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• absence of fibrillar melanosomes in the choroid and retina
|
|
• number of granules diminishes in adults after birth
|
|
• number of granules diminishes in adults after birth
|
|
• absence of melanin deposition on premelanosome filaments
|
|
• number of granules diminishes in adults after birth
|
|
• number of granules diminishes in adults after birth
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• on this non-agouti black background, the coat is a dark, dull, sepia color
|
|
• pigmentation is so reduced as to result in dark ruby-colored eyes
|
|
• pigmentation is so reduced as to result in dark ruby-colored eyes
|
|
• on this non-agouti black background, the coat is a dark, dull, sepia color
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 80% of premelanosomes in the choroid and retina are fused to form giant granules
|
|
• 80% of premelanosomes in the retina and choroid are fused to form giant granules
|
|
• 80% of premelanosomes in the choroid and retina are fused to form giant granules
|
|
• 80% of premelanosomes in the retina and choroid are fused to form giant granules
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• the tails of these mice are lightly pigmented
|
|
• these mice exhibit altered ocular pigmentation compared to wild-type mice
|
|
• mice homozygous for this tyrosinase promoter mutation on a nonagouti background appear light gray
|
|
• the tails of these mice are lightly pigmented
|
|
• mice homozygous for this tyrosinase promoter mutation on a nonagouti background appear light gray
|
|
• the tails of these mice are lightly pigmented
|
|
• these mice exhibit altered ocular pigmentation compared to wild-type mice
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• the fur of these mice appears dark gray
|
|
• the fur of these mice appears dark gray
|
|
• the eyes of these mice exhibit altered pigmentation
|
|
• the eyes of these mice exhibit altered pigmentation
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• the fur of these mice appears medium gray
|
|
• the fur of these mice appears medium gray
|
|
• the eyes of these mice exhibit altered pigmentation
|
|
• the eyes of these mice exhibit altered pigmentation
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• the fur of these Tyr compound heterozygous mice on a nonagouti background appears dark gray
|
|
• the fur of these Tyr compound heterozygous mice on a nonagouti background appears dark gray
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• the fur of mice homozygous for this Tyr mutation on a nonagouti background appears dark gray
|
|
• the fur of mice homozygous for this Tyr mutation on a nonagouti background appears dark gray
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• the fur of these Tyr compound heterozygous mice on a nonagouti background appears medium gray
|
|
• the fur of these Tyr compound heterozygous mice on a nonagouti background appears medium gray
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• the tails of these mice exhibit slightly lighter pigmentation than tails of wild-type agouti mice
|
|
• these mice exhibit nearly normal agouti pigmentation
|
|
• the tails of these mice exhibit slightly lighter pigmentation than tails of wild-type agouti mice
|
|
• these mice exhibit nearly normal agouti pigmentation
|
|
• the tails of these mice exhibit slightly lighter pigmentation than tails of wild-type agouti mice
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• on a nonagouti background, the fur of these compound Tyr heterozygotes appears lighter gray than that of mice homozygous for Tyrem2Ove
|
|
• on a nonagouti background, the fur of these compound Tyr heterozygotes appears lighter gray than that of mice homozygous for Tyrem2Ove
|
|
• these mice exhibit lighter ocular pigmentation than Tyrem2Ove homozygotes
|
|
• these mice exhibit lighter ocular pigmentation than Tyrem2Ove homozygotes
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• number of granules in the retina is greatly reduced
• size of granules is diminished
|
|
• number of granules in the retina is greatly reduced
• size of granules is diminished
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• premelanosomes form normally but melanin is not deposited on the filaments and they never mature and eventually disappear in the retina
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• reorganization of fibrillar melanosomes into particulate melanin granules, such that only 5% of melanosomes in the choroid and 50% in the retina are fibrillar in nature, the rest are particulate
|
|
• premelanosome formation and the subsequent deposition of melanin in the choroid is delayed until after birth
• decrease in the melanization of pigment granules
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• reorganization of fibrillar melanosomes into particulate melanin granules, such that 20% of granules in the choroid are particulate
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• about 75% of the coat is pigmented on this background
|
|
• about 75% of the coat is pigmented on this background
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• products of this genotype normalize eye color from ruby to wild-type black
|
|
• coat color dilution is not affected by the dilute repressor mutation, Mregdsu
• the wild-type nonagouti black coat is diluted to a dull reddish brown
|
|
• coat color dilution is not affected by the dilute repressor mutation, Mregdsu
• the wild-type nonagouti black coat is diluted to a dull reddish brown
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased mandible size
|
|
• increased mandible size
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased mandible size
• increased values for principal component analysis of mandible size measurements
|
|
• increased mandible size
• increased values for principal component analysis of mandible size measurements
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased mandible size
|
|
• increased mandible size
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased mandible size
|
|
• increased mandible size
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased mandible size
|
|
• increased mandible size
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased mandible size
• increased values for principal component analysis of mandible size measurements
|
|
• increased mandible size
• increased values for principal component analysis of mandible size measurements
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased mandible size
|
|
• increased mandible size
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased mandible size
|
|
• increased mandible size
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased mandible size
|
|
• increased mandible size
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased mandible size
|
|
• increased mandible size
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased values for principal component analysis of mandible size measurements
|
|
• increased values for principal component analysis of mandible size measurements
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased values for principal component analysis of mandible size measurements
|
|
• increased values for principal component analysis of mandible size measurements
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased values for principal component analysis of mandible size measurements
|
|
• increased values for principal component analysis of mandible size measurements
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased mandible size
|
|
• increased mandible size
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased mandible size
|
|
• increased mandible size
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased mandible size
|
|
• increased mandible size
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased mandible size
|
|
• increased mandible size
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased mandible size
|
|
• increased mandible size
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased mandible size
|
|
• increased mandible size
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased values for principal component analysis of mandible size
|
|
• increased values for principal component analysis of mandible size
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased values for pricipal component analysis of mandible size
|
|
• increased values for pricipal component analysis of mandible size
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased values for principal component analysis of mandible size measurements
|
|
• increased values for principal component analysis of mandible size measurements
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased values for principal component analysis of mandible size measurements
|
|
• increased values for principal component analysis of mandible size measurements
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased mandible size
|
|
• increased mandible size
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased values for principal component analysis of mandible size measurements
|
|
• increased values for principal component analysis of mandible size measurements
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased mandible size
|
|
• increased mandible size
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased mandible size
|
|
• increased mandible size
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased mandible size
|
|
• increased mandible size
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased mandible size
|
|
• increased mandible size
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased values for principal component analysis of mandible size
|
|
• increased values for principal component analysis of mandible size
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased mandible size
|
|
• increased mandible size
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased mandible size
|
|
• increased mandible size
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased mandible size
|
|
• increased mandible size
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased glucosuria severity at 40 days of age
|
|
• increased glucosuria severity at 40 days of age
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased glucosuria severity at 40 days of age
|
|
• increased glucosuria severity at 40 days of age
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased body weight at 40, 50, and 60 days of age
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased body weight at 40-100 days of age
(J:93199)
• increased body weight at 40, 50, and 60 days of age
(J:131439)
|
|
• increased weight gain at 30-40 days of age
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• compared with Ay/a mice
|
|
• compared with Ay/a mice
|
|
• compared with Ay/a mice
|
|
• compared with Ay/a mice
|
|
• compared with Ay/a mice
|
| N |
• mice exhibit normal intra-abdominal fat
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• compared with a/a homozygotes
|
|
• compared with a/a homozygotes
|
|
• compared with a/a homozygotes
|
|
• compared with a/a homozygotes
|
|
• compared with a/a homozygotes
|
| N |
• mice exhibit normal food intake
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice have clumped granules in the hair and skin
|
|
• granules tend to clump in the choroid but not in the retina
|
|
• granules tend to clump in the choroid but not in the retina
|
|
• mice have clumped granules in the hair and skin
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• dark sepia in color
• unlike mice wildtype for pink-eye the hairs are pigmented from tip to base and do not have large clumps of pigment, but may have small clumps of pigment
|
|
• dark sepia in color
• unlike mice wildtype for pink-eye the hairs are pigmented from tip to base and do not have large clumps of pigment, but may have small clumps of pigment
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice have clumped granules in the hair and skin
|
|
• granules tend to clump in the choroid but not in the retina
|
|
• granules tend to clump in the choroid but not in the retina
|
|
• mice have clumped granules in the hair and skin
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• upon induction of Ppargc1a expression in melanocytes, mice exhibit a noticeably darkened coat color relative to the yellow coat color of Ay/a Tg(Tyr-rtTA)37Lc/0 mice; however, the coat color does not become completely black
|
|
• upon induction of Ppargc1a expression in melanocytes, mice exhibit significantly increased presence of melanin in hair follicles relative to Ay/a Tg(Tyr-rtTA)37Lc/0 mice
|
|
• upon induction of Ppargc1a expression in melanocytes, mice exhibit a noticeably darkened coat color relative to the yellow coat color of Ay/a Tg(Tyr-rtTA)37Lc/0 mice; however, the coat color does not become completely black
|
|
• upon induction of Ppargc1a expression in melanocytes, mice exhibit significantly increased presence of melanin in hair follicles relative to Ay/a Tg(Tyr-rtTA)37Lc/0 mice
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• unlike Ay/a mice, the body weight of double homozygotes is similar to that of Dmbx1tm1Sse homozygotes
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• yellow pigment is pale, nearly lemon tint; the nonagouti type is indistinguishable from ordinary nonagouti or black
|
|
• black pigment is very slightly reduced, but coat appears black
|
|
• yellow pigment is pale, nearly lemon tint; the nonagouti type is indistinguishable from ordinary nonagouti or black
|
|
• black pigment is very slightly reduced, but coat appears black
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• on this background, as on the agouti background of C3H/W, the coat color of mice homozygous for this mutation is significantly diluted, appearing pale buff with occasional, interspersed darker hairs
|
|
• on this background, as on the agouti background of C3H/W, the coat color of mice homozygous for this mutation is significantly diluted, appearing pale buff with occasional, interspersed darker hairs
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• Background Sensitivity: whereas heterozygosity for this mutation has no apparent effect on the agouti (A/A) background of C3H/W, on this nonagouti brown background, the coat color of mice heterozygous for wad is obviously diluted--the shade of milk chocolate versus the dark brown of wild-type animals--with occasional, interspersed darker hairs
|
|
• Background Sensitivity: whereas heterozygosity for this mutation has no apparent effect on the agouti (A/A) background of C3H/W, on this nonagouti brown background, the coat color of mice heterozygous for wad is obviously diluted--the shade of milk chocolate versus the dark brown of wild-type animals--with occasional, interspersed darker hairs
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• the black pigment in the coat is reduced on this background and is described as sepia, reddish-brown or slate-black
• yellow coat pigment in hair behind the ears, surrounding the mammae, and in the perineum is slightly diluted
|
|
• at birth the iris pigment ring is lacking and adults have ruby colored eyes
(J:13122)
• electron microscopy shows reduced numbers of melanosomes in the retinal pigment epithelium, those that are found have abnormal morphology including multilamellar or granular inclusions, and choroidal melanosomes are also often misshapen and less dense than normal and tend to be clumped within multimelanosomal bodies
(J:81444)
|
|
• the number of melanocytes in the retina, ear skin, Harderian gland, are greatly reduced
|
|
• eyes are unpigmented at birth but later, when opened, are a dark ruby color
|
|
• at birth the iris pigment ring is lacking and adults have ruby colored eyes
(J:13122)
• electron microscopy shows reduced numbers of melanosomes in the retinal pigment epithelium, those that are found have abnormal morphology including multilamellar or granular inclusions, and choroidal melanosomes are also often misshapen and less dense than normal and tend to be clumped within multimelanosomal bodies
(J:81444)
|
|
• eyes are unpigmented at birth but later, when opened, are a dark ruby color
|
|
• the black pigment in the coat is reduced on this background and is described as sepia, reddish-brown or slate-black
• yellow coat pigment in hair behind the ears, surrounding the mammae, and in the perineum is slightly diluted
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• eunmelanin is brown rather than black
|
|
• eunmelanin is brown rather than black
|
|
• eunmelanin is brown rather than black
|
|
• cell shape is spheroid rather than ovoid
|
|
• eunmelanin is brown rather than black
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• clumping of melanin pigment into large granular clumps in medullary cells reduces the amount of light absorbed producing a blue-gray cast to the coat color
|
|
• clumping of pigment creates local increase in hair diameter
• there are occasional large masses in air spaces between the medullary discs
|
|
• pigment clumps within medullary cells
• shape, size, color, amount and color of melanin are normal
|
|
• clumping of melanin pigment into large granular clumps in medullary cells reduces the amount of light absorbed producing a blue-gray cast to the coat color
|
|
• reduction in cortical pigment dulls the eye color compared with wild-type
|
|
• fewer and thinner dendritic processes compared with wild-type mice
• melanin granules concentrated in the center of cells
|
|
• pigment clumps within medullary cells
• shape, size, color, amount and color of melanin are normal
|
|
• reduction in cortical pigment dulls the eye color compared with wild-type
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• this genotype is indistinguishable from homozygous nonagouti, Myo5ad mice
|
|
• pigment bearing cells have fewer and thinner dendritic processes than wild-type melanocytes
• abnormality of shape results in clumping of melanin granules
|
|
• melanin granules are clumped into large masses due to the shape of the melanocytes
|
|
• this genotype is indistinguishable from homozygous nonagouti, Myo5ad mice
|
|
• this genotype is indistinguishable from homozygous nonagouti, Myo5ad mice
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• pigment bearing cells have fewer and thinner dendritic processes than wild-type melanocytes
• abnormality of shape results in clumping of melanin granules
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• melanin granules are clumped into large masses due to the shape of the melanocytes
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• this genotype is indistinguishable from homozygous nonagouti, Myo5ad mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice are intense black, darker than mice homozygous for nonagouti and closely resembling mice homozygous for
ae
• no yellow hairs on or behind the ears or around the nipples and perineum
|
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• mice are intense black, darker than mice homozygous for nonagouti and closely resembling mice homozygous for
ae
• no yellow hairs on or behind the ears or around the nipples and perineum
|
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• the tail has much less pigment than normal mice
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• the ears appear much lighter than ears of normal mice
(J:78801)
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• black and brown pigmentation in hair is significantly reduced
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• pigment granules are not diluted but no longer evenly distributed, found as flecks and large loose clumps
• the color quality of the pigment is not altered but there are fewer cortical granules and an increase in pigmentation lag
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• pigment occurs in loose clumps
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• the tail has much less pigment than normal mice
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• eyes are similar in color to eyes of albino mice
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• eyes are similar in color to eyes of albino mice
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• the ears appear much lighter than ears of normal mice
(J:78801)
|
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• the ears appear much lighter than ears of normal mice
(J:78801)
|
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• the ears appear much lighter than ears of normal mice
(J:78801)
|
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• black and brown pigmentation in hair is significantly reduced
|
|
• pigment granules are not diluted but no longer evenly distributed, found as flecks and large loose clumps
• the color quality of the pigment is not altered but there are fewer cortical granules and an increase in pigmentation lag
|
|
• pigment occurs in loose clumps
|
|
• the tail has much less pigment than normal mice
|
|
• the ears appear much lighter than ears of normal mice
(J:78801)
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• the ventral hairs are substantially less pigmented than those of the dorsum
|
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• although in early stages of hair growth the granules are round and relatively uniform in size, in later stages they are larger, more variable in size, and some clumping is found
• by the 9th day of a new hair growth cycle some hair bulbs are devoid of pigmentation and by 14 days very few follicles have active melanocytes
|
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• variation in the amount of pigmentation present in one hair shaft versus the next
• variation in the size ans shape of pigment granules, with some instances of large masses of pigment in a particular hair shaft
|
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• hair shafts have large clumps of pigmented granules predominantly restricted to the medullary regions
• decreased pigmentation in the hair shafts with age
|
|
• the ventral hairs are substantially less pigmented than those of the dorsum
|
|
• although in early stages of hair growth the granules are round and relatively uniform in size, in later stages they are larger, more variable in size, and some clumping is found
• by the 9th day of a new hair growth cycle some hair bulbs are devoid of pigmentation and by 14 days very few follicles have active melanocytes
|
|
• variation in the amount of pigmentation present in one hair shaft versus the next
• variation in the size ans shape of pigment granules, with some instances of large masses of pigment in a particular hair shaft
|
|
• hair shafts have large clumps of pigmented granules predominantly restricted to the medullary regions
• decreased pigmentation in the hair shafts with age
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• the ventral hairs are substantially less pigmented than those of the dorsum
|
|
• large clumps of pigment are found in hair and vibrissae, but less frequently than in homozygotes
|
|
• fewer pigment granules per septum in proceeding from tip to base of the hair, but more pigment granules than in homozygotes
|
|
• the ventral hairs are substantially less pigmented than those of the dorsum
|
|
• large clumps of pigment are found in hair and vibrissae, but less frequently than in homozygotes
|
|
• fewer pigment granules per septum in proceeding from tip to base of the hair, but more pigment granules than in homozygotes
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• more dilute than mice heterozygous for light due to a further diminution in the eumelanic pigment, but there is no alteration in the yellow bands of the hair shaft
|
|
• more dilute than mice heterozygous for light due to a further diminution in the eumelanic pigment, but there is no alteration in the yellow bands of the hair shaft
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• the light mutation does not seem to impact the yellow phenotype since the coat color of mice without the light mutation is the same yellow coat color as that found in mice carrying at least one copy of the light mutation
|
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• the light mutation does not seem to impact the yellow phenotype since the coat color of mice without the light mutation is the same yellow coat color as that found in mice carrying at least one copy of the light mutation
|
|
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• less white spotting is seen in mice of this genotype than in mice without Ay
• a modifier of the amount of white spotting in heterozygous Kit mice was determined to reduce white spotting in heterozygous Ay mice
|
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• less white spotting is seen in mice of this genotype than in mice without Ay
• a modifier of the amount of white spotting in heterozygous Kit mice was determined to reduce white spotting in heterozygous Ay mice
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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 04/16/2024 MGI 6.23 |
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