Mouse Genome Informatics
hm1
    a/a
involves: SM/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
endocrine/exocrine glands
N
• total cortex and x-zone of adrenal cortex are of similar thickness to Aw/a or Aw/ Aw 70-day old virgin mice (J:19308)
• X-zone is composed exclusively of non-vacuolated cells (J:19308)
• zona glomerulosa, zona fasciculata, and zona reticularis are morphologically similar between genotypes (J:19308)


Mouse Genome Informatics
hm2
    a/a
Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
integument
• hairs lack the yellow pigment band found in the wild-type agouti black coat
• hairs are black except for yellow hairs around ears, mammae, and perineum

pigmentation
• hairs lack the yellow pigment band found in the wild-type agouti black coat
• hairs are black except for yellow hairs around ears, mammae, and perineum


Mouse Genome Informatics
ht3
    au/a
(C3H/HeH x 101/H)F1
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• 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

integument
• 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


Mouse Genome Informatics
ht4
    ax/a
B6.Cg-ax
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
integument
• 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
• at 3-4 weeks of age, a paler ventrum distinguishes this genotype from homozygous non-agouti or mice

pigmentation
• 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
• at 3-4 weeks of age, a paler ventrum distinguishes this genotype from homozygous non-agouti or mice

mortality/aging
• blastocysts are abnormal at E4.5
• implantation success varies
• histological analysis shows growth is slowed and only disorganized tissue is evident by E7.5 and E8.5


Mouse Genome Informatics
ht5
    Ay/a
B6.Cg-Ay/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Ay/a mouse

behavior/neurological
• the stress of isolation, restraint, or ip injection inhibits feeding

pigmentation
• 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)

integument
• 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)


Mouse Genome Informatics
ht6
    a/Aw-22J
C57BL/10Rk
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
integument
• 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

pigmentation
• 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


Mouse Genome Informatics
ht7
    Aw-46J/a
C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation

integument


Mouse Genome Informatics
ht8
    Asy/a
C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• dark or sooty yellow due to black tips on otherwise yellow hair

integument
• dark or sooty yellow due to black tips on otherwise yellow hair


Mouse Genome Informatics
ht9
    a/Aw-20J
C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
integument
• 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

pigmentation
• 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


Mouse Genome Informatics
ht10
    Aw-26J/a
C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
integument
• the ventral and flank coat is agouti instead of the expected non-agouti black
• the ventrum is white or "light"

pigmentation
• the ventral and flank coat is agouti instead of the expected non-agouti black
• the ventrum is white or "light"


Mouse Genome Informatics
ht11
    Aw-27J/a
C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
integument
• the ventrum and flank coat is agouti
• the ventrum is white or "light"

pigmentation
• the ventrum and flank coat is agouti
• the ventrum is white or "light"


Mouse Genome Informatics
ht12
    atd/a
C57BL/6J-atd/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• 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/?

integument
• 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/?


Mouse Genome Informatics
ht13
    Atm1Brd/a
C57BL/6N-Atm1Brd/a
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
N
• mice heterozygous for this targeted reversion to agouti on an otherwise normal C57BL/6N background have agouti coats, each hair having a subapical yellow band (J:149352)

integument
N
• mice heterozygous for this targeted reversion to agouti on an otherwise normal C57BL/6N background have agouti coats, each hair having a subapical yellow band (J:149352)


Mouse Genome Informatics
ht14
    a/a6H
involves: 101/H * C3H/HeH
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• with nonagouti the coat color is umbrous with yellow pinna hairs
• pinna hairs are yellow, unexpected for this genotype

integument
• with nonagouti the coat color is umbrous with yellow pinna hairs
• pinna hairs are yellow, unexpected for this genotype


Mouse Genome Informatics
ht15
    al/a
involves: 101/H * C3H/HeH
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
N
• appears as aa, homozygous nonagouti black (J:9799)


Mouse Genome Informatics
ht16
    a/a13H
involves: 101/H * C3H/HeH
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
integument

pigmentation


Mouse Genome Informatics
ht17
    a/a17H
involves: 101/H * C3H/HeH
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
integument

pigmentation


Mouse Genome Informatics
ht18
    am/a
involves: 101/Rl * C3H/Rl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• 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)
• matings of genotype am/a to a/a mice produce about 50% mottled offspring

other phenotype
• the genetic background of the mother influences the coat pattern of the offspring

integument
• 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)
• matings of genotype am/a to a/a mice produce about 50% mottled offspring


Mouse Genome Informatics
ht19
    ax/a
involves: 101/Rl * C3H/Rl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
integument
• the coat is slightly paler than that of a homozygous non-agouti coat

pigmentation
• the coat is slightly paler than that of a homozygous non-agouti coat


Mouse Genome Informatics
ht20
    a/a19H
involves: C3H/HeH
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
integument

pigmentation


Mouse Genome Informatics
ht21
    Avy/a
involves: C3H/HeJ * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Spectrum of coat colors in Avy/a mice

growth/size

pigmentation
• variable coat color ranging from yellow, mosaic yellow/agouti, or pseudoagouti

tumorigenesis

integument
• variable coat color ranging from yellow, mosaic yellow/agouti, or pseudoagouti

cellular
• 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
OMIM IDRef(s)
Obesity 601665 J:13142 , J:117156


Mouse Genome Informatics
ht22
    am-J/a
involves: C3H/HeJ * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• found in both heterozygotes and homozygotes and ranges in color from almost extreme non-agouti with little ticking to full agouti with no mottling

integument
• found in both heterozygotes and homozygotes and ranges in color from almost extreme non-agouti with little ticking to full agouti with no mottling


Mouse Genome Informatics
ht23
    Avy/a
involves: C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation

integument

cellular
• this allele is heavily methylated in the sperm of agouti colored males but hypomethylated in the sperm of yellow males


Mouse Genome Informatics
ht24
    Aw-15J/a
involves: C57BL/6J * DBA/2J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
integument
• 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

pigmentation
• 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


Mouse Genome Informatics
ht25
    Ay/a
involves: KK
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
homeostasis/metabolism
• blood glucose levels increase with age in both sexes
• marked hyperglycemia (400-500 mg/dl) develops by 16 weeks of age
• markedly elevated plasma immunoreactive insulin (IRI) level increases with age
• present at all ages tested (5, 10, 16 weeks) and in both sexes
• insulin sensitivity is impaired at 10 weeks and lost by 16 weeks
• 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

adipose tissue
• adipose tissue weight increases with age, reaching a maximum at 10 weeks of age

growth/size
• adipose tissue weight increases with age, reaching a maximum at 10 weeks of age
• greater body weight gain occurs in females as compared to black KK controls

endocrine/exocrine glands
• islets are hypertrophic in 10-16 week old mice
• central cavity formation with occasional red blood cells is observed in islets
• beta cells are degranulated
• degranulated islets are infiltrated with fine glycogen granules

renal/urinary system
• present at all ages tested (5, 10, 16 weeks) and in both sexes
• basement membrane of Bowman's capsules is thickened
• some glomeruli exhibit an accumulation of eosinophilic material in the outer parts of the capillary
• mesangial matrix is thickened
• basement membrane of tubules is thickened
• hyaline materials or hyaline cast is present in tubules
• hyaline materials or hyaline cast is present in tubules

Mouse Models of Human Disease
OMIM IDRef(s)
Diabetes Mellitus, Noninsulin-Dependent; NIDDM 125853 J:26460


Mouse Genome Informatics
ht26
    Aw/a
involves: SM/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
endocrine/exocrine glands
N
• total cortex and x-zone of adrenal cortex are of similar thickness to a/a and Aw/ Aw 70-day old virgin mice (J:19308)
• X-zone is composed exclusively of non-vacuolated cells (J:19308)
• 70-day old hybrids of mixed C57BL/6 and SM/J background have non-vacuolated x-zones (J:19308)


Mouse Genome Informatics
ht27
    ajl10/a
Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• jet-black appearance is probably equivalent to extreme nonagouti

integument
• jet-black appearance is probably equivalent to extreme nonagouti


Mouse Genome Informatics
ht28
    ajl41/a
Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• jet-black appearance is probably equivalent to extreme nonagouti

integument
• jet-black appearance is probably equivalent to extreme nonagouti


Mouse Genome Informatics
ht29
    ajl85/a
Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• jet-black appearance is probably equivalent to extreme nonagouti

integument
• jet-black appearance is probably equivalent to extreme nonagouti


Mouse Genome Informatics
ht30
    a/atwp
Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• mice have a black dorsum and white ventrum
• mice have a white ventrum, the pattern identical to that seen on at/- mice
• mice have a subtle yellow throat patch

integument
• mice have a black dorsum and white ventrum
• mice have a white ventrum, the pattern identical to that seen on at/- mice
• mice have a subtle yellow throat patch


Mouse Genome Informatics
ht31
    a/a20H
Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
integument

pigmentation


Mouse Genome Informatics
cx32
    a/a
Hps6ru/Hps6ru

B6.Cg-Hps6ru
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
hematopoietic system
• platelet ADP levels are much lower than in C57BL/6J controls
• platelet ATP levels are much lower than in C57BL/6J controls
• fewer platelet dense granules than normal
• 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)

homeostasis/metabolism
• 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

cardiovascular system
• 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

integument

pigmentation

nervous system
• the ipsilateral lateral geniculate nucleus has fewer projections from the retinal ganglion cells
• there is a reduced number of projections of retinal ganglion cells to the ipsilateral lateral geniculate nucleus

vision/eye
• there is a reduced number of projections of retinal ganglion cells to the ipsilateral lateral geniculate nucleus

renal/urinary system
• concentration of lysosomal enzymes is elevated
• decreased rate of secretion of lysosomal enzyme into urine


Mouse Genome Informatics
cx33
    a/a
KitW-2J/Kit+

C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• about 75% of the coat is pigmented on this background

integument
• about 75% of the coat is pigmented on this background


Mouse Genome Informatics
cx34
    a/a
Mlphln/Mlphln
Tyrp1b/Tyrp1b

C57L/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• due to clumping of pigment
• results in clumping rather than even distribution of pigment during hair development

integument
• due to clumping of pigment


Mouse Genome Informatics
cx35
    Ay/a
Npbwr1tm1Rck/Npbwr1tm1Rck

involves: 129P/Ola * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
growth/size
• male double homozygotes were more obese than heterozygous Ay males whereas females weighted the same as heterozygous Ay females


Mouse Genome Informatics
cx36
    Ay/a
Apoetm1Unc/Apoetm1Unc

involves: 129P2/OlaHsd * C57BL/6J * KK/TaJcl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
cardiovascular system
• mutants develop larger atherosclerotic plaques than a/a Apoetm1Unc/Apoetm1Unc mice
• plaques contain a higher proportion of macrophage infiltration

growth/size
• mutants exhibit increased weight gain, despite similar food intake as controls

hematopoietic system
• increase in the proportion of inflammatory monocytes in the blood, liver, muscle, and kidney, but not epididymal fat pads

homeostasis/metabolism

immune system
• increase in the proportion of inflammatory monocytes in the blood, liver, muscle, and kidney, but not epididymal fat pads
• increase in systemic inflammation

renal/urinary system
• mutants develop features of diabetic nephropathy
• mutants exhibit mesangial expansion as indicated by glycogen deposition in the glomeruli
• 20-30% of mutants exhibit nodular sclerosis in the kidney


Mouse Genome Informatics
cx37
    Ay/a
Apoetm1Unc/Apoetm1Unc
Ccr2tm1Mae/Ccr2tm1Mae

involves: 129P2/OlaHsd * C57BL/6J * KK/TaJcl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
homeostasis/metabolism
N
• mutants are protected against the metabolic syndrome, atherosclerosis, and diabetic nephropathy that develops in Ay/a Apoetm1Unc double mutants (J:177084)


Mouse Genome Informatics
cx38
    Avy/a
Axin1Fu/Axin1+

involves: 129P4/RrRk * C67BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
cellular
• 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


Mouse Genome Informatics
cx39
    Ay/a
Agrptm2(DTR)Rpa/Agrp+

involves: 129S4/SvJaeSor * KK/Upj
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
behavior/neurological
• in mice treated with diptheria toxin (DT) to specifically ablate NPY-expressing cells

growth/size
• in mice treated with diptheria toxin (DT) to specifically ablate NPY-expressing cells


Mouse Genome Informatics
cx40
    a/A
Pomctm1Sora/Pomctm1Sora

involves: 129S6/SvEvTac
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• 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)

integument
• 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)


Mouse Genome Informatics
cx41
    a/A
Mc1re/Mc1re
Pomctm1Sora/Pomctm1Sora
Tg(MC1R)1Jkn/?

involves: 129S6/SvEvTac * C57BL/6Ha
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• 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)

integument
• 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)


Mouse Genome Informatics
cx42
    a/a
Mc1re/Mc1re
Pomctm1Sora/Pomctm1Sora
Tg(MC1R)1Jkn/?

involves: 129S6/SvEvTac * C57BL/6Ha
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• 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)

integument
• 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)


Mouse Genome Informatics
cx43
    Aw/a
Corintm1Bamo/Corintm1Bamo

involves: 129X1/SvJ * C57BL/6 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• 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

integument
• 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


Mouse Genome Informatics
cx44
    a/a
Corintm1Bamo/Corintm1Bamo

involves: 129X1/SvJ * C57BL/6 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
integument
N
• mice exhibit normal black coat color (J:130426)
• Background Sensitivity: authors state that mice on a C57BL/6 background for more than 6 generation exhibit a qualitatively similar phenotype (J:130426)


Mouse Genome Informatics
cx45
    a/a
Oca2p-J/Oca2p-J

involves: C3H/HeJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• 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

vision/eye
• 2% of premelanosomes in the choroid are fused to form giant granules


Mouse Genome Informatics
cx46
    a/a
Lystbg/Lystbg
Oca2p-J/Oca2p-J

involves: C3H/HeJ * C3H/Rl * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• 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

vision/eye
• 2% of premelanosomes in the choroid are fused to form giant granules


Mouse Genome Informatics
cx47
    a/a
Rab27aash/Rab27aash

involves: C3H/HeSnJ * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
hematopoietic system
N
• Background Sensitivity: platelet-dense granules and platelet coagulation are normal or near normal unlike on the C3H/HeSnJ background (J:77395)
• 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 (J:77395)
• 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

homeostasis/metabolism
• 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
OMIM IDRef(s)
Griscelli Syndrome, Type 2; GS2 607624 J:77395


Mouse Genome Informatics
cx48
    a/a
Lystbg/Lystbg

involves: C3H/Rl * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• 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

vision/eye
• 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


Mouse Genome Informatics
cx49
    a/a
Lystbg/Lystbg
Tyrc/Tyrc

involves: C3H/Rl * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• 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

vision/eye
• number of granules diminishes in adults after birth
• number of granules diminishes in adults after birth


Mouse Genome Informatics
cx50
    a/a
Hps6ru/Hps6ru
Lystbg/Lystbg

involves: C3H/Rl * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• 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

vision/eye
• 80% of premelanosomes in the retina are fused to form giant premelanosomes


Mouse Genome Informatics
cx51
    a/a
Lystbg/Lystbg
Tyrp1b/Tyrp1b

involves: C3H/Rl * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• 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

vision/eye
• 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


Mouse Genome Informatics
cx52
    Ay/a
Rmi1Gt(pUHachi)0283Imeg/Rmi1+

involves: C57BL/6 * KK
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
growth/size
• compared with Ay/a mice

homeostasis/metabolism
• compared with Ay/a mice
• compared with Ay/a mice

behavior/neurological
• compared with Ay/a mice

liver/biliary system
• compared with Ay/a mice

adipose tissue
N
• mice exhibit normal intra-abdominal fat (J:168271)


Mouse Genome Informatics
cx53
    a/a
Rmi1Gt(pUHachi)0283Imeg/Rmi1+

involves: C57BL/6 * KK
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
growth/size
• compared with a/a homozygotes

homeostasis/metabolism
• compared with a/a homozygotes
• compared with a/a homozygotes

liver/biliary system
• compared with a/a homozygotes

adipose tissue
• compared with a/a homozygotes

behavior/neurological
N
• mice exhibit normal food intake (J:168271)


Mouse Genome Informatics
cx54
    a/a
Tyrc/Tyrc

involves: C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• premelanosomes form normally but melanin is not deposited on the filaments and they never mature and eventually disappear in the retina


Mouse Genome Informatics
cx55
    a/a
Hps6ru/Hps6ru

involves: C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• 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

vision/eye


Mouse Genome Informatics
cx56
    a/a
Tyrp1b/Tyrp1b

involves: C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• reorganization of fibrillar melanosomes into particulate melanin granules, such that 20% of granules in the choroid are particulate


Mouse Genome Informatics
cx57
    a/a
Bloc1s6pa/Bloc1s6pa

involves: C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• number of granules in the retina is greatly reduced
• size of granules is diminished

vision/eye
• number of granules in the retina is greatly reduced
• size of granules is diminished


Mouse Genome Informatics
cx58
    a/a
Mregdsu/Mregdsu
Hps6ru/Hps6ru

involves: C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
normal phenotype
• products of this genotype normalize eye color from ruby to wild-type black
• coat color dilution is not affected

integument
• 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

pigmentation
• 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


Mouse Genome Informatics
cx59
    a/a
Zc3h4KK/Zc3h4KK

involves: C57BL/6J * KK-Ay
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
growth/size


Mouse Genome Informatics
cx60
    a/Ay
Zc3h4KK/Zc3h4KK

involves: C57BL/6J * KK-Ay
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
growth/size


Mouse Genome Informatics
cx61
    a/Ay
Zc3h4C57BL/6J/Zc3h4KK

involves: C57BL/6J * KK-Ay
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
growth/size
• increased body weight


Mouse Genome Informatics
cx62
    a/Ay
Bwq2KK/Bwq2KK

involves: C57BL/6J * KK-Ay
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
growth/size
• 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


Mouse Genome Informatics
cx63
    a/Ay
Bwq10C57BL/6J/Bwq10C57BL/6J

involves: C57BL/6J * KK-Ay
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
growth/size
• increased body weight at 40, 50, and 60 days of age


Mouse Genome Informatics
cx64
    a/Ay
Guq1KK/Guq1KK

involves: C57BL/6J * KK-Ay
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
homeostasis/metabolism
• increased glucosuria severity at 40 days of age

renal/urinary system
• increased glucosuria severity at 40 days of age


Mouse Genome Informatics
cx65
    a/Ay
Guq2C57BL/6J/Guq2C57BL/6J

involves: C57BL/6J * KK-Ay
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
homeostasis/metabolism
• increased glucosuria severity at 40 days of age

renal/urinary system
• increased glucosuria severity at 40 days of age


Mouse Genome Informatics
cx66
    Ay/a
Mssq1KK/TaJcl/?

involves: C57BL/6JJcl * KK/TaJcl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• increased mandible size

skeleton
• increased mandible size


Mouse Genome Informatics
cx67
    a/a
Mssq1KK/TaJcl/?

involves: C57BL/6JJcl * KK/TaJcl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• increased mandible size

skeleton
• increased mandible size


Mouse Genome Informatics
cx68
    Ay/a
Mssq2C57BL/6JJcl/Mssq2KK/TaJcl

involves: C57BL/6JJcl * KK/TaJcl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• increased mandible size

skeleton
• increased mandible size


Mouse Genome Informatics
cx69
    Ay/a
Mssq3KK/TaJcl/?

involves: C57BL/6JJcl * KK/TaJcl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• increased mandible size

skeleton
• increased mandible size


Mouse Genome Informatics
cx70
    a/a
Mssq3KK/TaJcl/?

involves: C57BL/6JJcl * KK/TaJcl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• increased mandible size

skeleton
• increased mandible size


Mouse Genome Informatics
cx71
    Ay/a
Mssq4KK/TaJcl/?

involves: C57BL/6JJcl * KK/TaJcl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• increased mandible size

skeleton
• increased mandible size


Mouse Genome Informatics
cx72
    a/a
Mssq4KK/TaJcl/?

involves: C57BL/6JJcl * KK/TaJcl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• increased mandible size

skeleton
• increased mandible size


Mouse Genome Informatics
cx73
    Ay/a
Mssq5C57BL/6JJcl/?

involves: C57BL/6JJcl * KK/TaJcl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• increased mandible size

skeleton
• increased mandible size


Mouse Genome Informatics
cx74
    a/a
Mssq5C57BL/6JJcl/?

involves: C57BL/6JJcl * KK/TaJcl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• increased mandible size

skeleton
• increased mandible size


Mouse Genome Informatics
cx75
    Ay/a
Mssq6C57BL/6JJcl/?

involves: C57BL/6JJcl * KK/TaJcl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• increased values for principal component analysis of mandible size

skeleton
• increased values for principal component analysis of mandible size


Mouse Genome Informatics
cx76
    a/a
Mssq6C57BL/6JJcl/?

involves: C57BL/6JJcl * KK/TaJcl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• increased values for pricipal component analysis of mandible size

skeleton
• increased values for pricipal component analysis of mandible size


Mouse Genome Informatics
cx77
    Ay/a
Mssq6KK/TaJcl/?

involves: C57BL/6JJcl * KK/TaJcl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• increased mandible size

skeleton
• increased mandible size


Mouse Genome Informatics
cx78
    a/a
Mssq6KK/TaJcl/?

involves: C57BL/6JJcl * KK/TaJcl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• increased mandible size

skeleton
• increased mandible size


Mouse Genome Informatics
cx79
    Ay/a
Mssq7KK/TaJcl/?

involves: C57BL/6JJcl * KK/TaJcl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• increased mandible size

skeleton
• increased mandible size


Mouse Genome Informatics
cx80
    a/a
Mssq7KK/TaJcl/?

involves: C57BL/6JJcl * KK/TaJcl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• increased mandible size

skeleton
• increased mandible size


Mouse Genome Informatics
cx81
    a/a
Mssq8C57BL/6JJcl/?

involves: C57BL/6JJcl * KK/TaJcl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• increased values for principal component analysis of mandible size

skeleton
• increased values for principal component analysis of mandible size


Mouse Genome Informatics
cx82
    a/a
Mssq9C57BL/6JJcl/?

involves: C57BL/6JJcl * KK/TaJcl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• increased mandible size

skeleton
• increased mandible size


Mouse Genome Informatics
cx83
    Ay/a
Mssq9C57BL/6JJcl/?

involves: C57BL/6JJcl * KK/TaJcl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• increased mandible size

skeleton
• increased mandible size


Mouse Genome Informatics
cx84
    a/a
Mssq10KK/TaJcl/?

involves: C57BL/6JJcl * KK/TaJcl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• increased mandible size

skeleton
• increased mandible size


Mouse Genome Informatics
cx85
    Ay/a
Mssq10KK/TaJcl/?

involves: C57BL/6JJcl * KK/TaJcl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• increased mandible size

skeleton
• increased mandible size


Mouse Genome Informatics
cx86
    a/a
Mssq11KK/TaJcl/?

involves: C57BL/6JJcl * KK/TaJcl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• increased values for principal component analysis of mandible size measurements

skeleton
• increased values for principal component analysis of mandible size measurements


Mouse Genome Informatics
cx87
    Ay/a
Mssq11KK/TaJcl/?

involves: C57BL/6JJcl * KK/TaJcl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• increased values for principal component analysis of mandible size measurements

skeleton
• increased values for principal component analysis of mandible size measurements


Mouse Genome Informatics
cx88
    a/a
Mssq12KK/TaJcl/?

involves: C57BL/6JJcl * KK/TaJcl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• increased values for principal component analysis of mandible size measurements

skeleton
• increased values for principal component analysis of mandible size measurements


Mouse Genome Informatics
cx89
    Ay/a
Mssq12KK/TaJcl/?

involves: C57BL/6JJcl * KK/TaJcl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• increased values for principal component analysis of mandible size measurements

skeleton
• increased values for principal component analysis of mandible size measurements


Mouse Genome Informatics
cx90
    a/a
Mssq13KK/TaJcl/?

involves: C57BL/6JJcl * KK/TaJcl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• increased values for principal component analysis of mandible size measurements

skeleton
• increased values for principal component analysis of mandible size measurements


Mouse Genome Informatics
cx91
    Ay/a
Mssq13KK/TaJcl/?

involves: C57BL/6JJcl * KK/TaJcl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• increased values for principal component analysis of mandible size measurements

skeleton
• increased values for principal component analysis of mandible size measurements


Mouse Genome Informatics
cx92
    a/a
Mssq13C57BL/6JJcl/?

involves: C57BL/6JJcl * KK/TaJcl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• increased mandible size

skeleton
• increased mandible size


Mouse Genome Informatics
cx93
    Ay/a
Mssq13C57BL/6JJcl/?

involves: C57BL/6JJcl * KK/TaJcl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• increased mandible size

skeleton
• increased mandible size


Mouse Genome Informatics
cx94
    a/a
Mssq14KK/TaJcl/?

involves: C57BL/6JJcl * KK/TaJcl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• increased mandible size
• increased values for principal component analysis of mandible size measurements

skeleton
• increased mandible size
• increased values for principal component analysis of mandible size measurements


Mouse Genome Informatics
cx95
    Ay/a
Mssq14KK/TaJcl/?

involves: C57BL/6JJcl * KK/TaJcl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• increased mandible size
• increased values for principal component analysis of mandible size measurements

skeleton
• increased mandible size
• increased values for principal component analysis of mandible size measurements


Mouse Genome Informatics
cx96
    a/a
Mssq15C57BL/6JJcl/Mssq15KK/TaJcl

involves: C57BL/6JJcl * KK/TaJcl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• increased mandible size

skeleton
• increased mandible size


Mouse Genome Informatics
cx97
    a/a
Mssq16KK/TaJcl/?

involves: C57BL/6JJcl * KK/TaJcl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• increased mandible size

skeleton
• increased mandible size


Mouse Genome Informatics
cx98
    Ay/a
Mssq16KK/TaJcl/?

involves: C57BL/6JJcl * KK/TaJcl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• increased mandible size

skeleton
• increased mandible size


Mouse Genome Informatics
cx99
    a/a
Mlphln/Mlphln

involves: C57BL/J * C57BR
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• mice have clumped granules in the hair and skin
• granules tend to clump in the choroid but not in the retina

vision/eye
• granules tend to clump in the choroid but not in the retina

integument
• mice have clumped granules in the hair and skin


Mouse Genome Informatics
cx100
    a/a
Myo5ad/Myo5a+
Oca2p/Oca2+
Tyrp1B-lt/Tyrp1+

involves: C58 * CT/Ch
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• 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

integument
• 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


Mouse Genome Informatics
cx101
    a/a
Myo5ad/Myo5ad

involves: DBA/2J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• mice have clumped granules in the hair and skin
• granules tend to clump in the choroid but not in the retina

vision/eye
• granules tend to clump in the choroid but not in the retina

integument
• mice have clumped granules in the hair and skin


Mouse Genome Informatics
cx102
    Ay/a
Dmbx1tm1Sse/Dmbx1tm1Sse

involves: ICR
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
growth/size
• unlike Ay/a mice, the body weight of double homozygotes is similar to that of Dmbx1 homozygotes


Mouse Genome Informatics
cx103
    a/a
Tyrc-i/Tyrc-i

involves: STOCK Tyrc-r
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• 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

integument
• 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


Mouse Genome Informatics
cx104
    a/a
Tyrp1B-lt/Tyrp1B-lt

Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• 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

integument
• 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


Mouse Genome Informatics
cx105
    a/a
Tyrp1B-lt/Tyrp1+

Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• 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

integument
• 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


Mouse Genome Informatics
cx106
    A/a
Tyrp1B-lt/Tyrp1B-lt

Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• 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

integument
• 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


Mouse Genome Informatics
cx107
    Ay/a
Tyrp1B-lt/?

Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• 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

integument
• 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


Mouse Genome Informatics
cx108
    a/a
U/U

Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• 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

integument
• 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


Mouse Genome Informatics
cx109
    a/a
Oca2p/Oca2p

Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• 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
• eyes are similar in color to eyes of albino mice

vision/eye
• eyes are similar in color to eyes of albino mice

craniofacial
• the ears appear much lighter than ears of normal mice

hearing/vestibular/ear
• the ears appear much lighter than ears of normal mice

integument
• 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

growth/size
• the ears appear much lighter than ears of normal mice


Mouse Genome Informatics
cx110
    a/a
Hps6ru/Hps6ru

Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• 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

vision/eye
• 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

integument
• 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


Mouse Genome Informatics
cx111
    a/a
Tyrp1b/Tyrp1b
wad/wad+

Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• 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

integument
• 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


Mouse Genome Informatics
cx112
    a/a
Tyrp1b/Tyrp1b
wad/wad

Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• 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

integument
• 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


Mouse Genome Informatics
cx113
    Ay/a
Ednrbs/Ednrbs

Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
integument
• 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

pigmentation
• 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


Mouse Genome Informatics
cx114
    a/a
Myo5ad/Myo5ad

Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
integument
• 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

pigmentation
• 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

vision/eye
• reduction in cortical pigment dulls the eye color compared with wild-type


Mouse Genome Informatics
cx115
    a/a
Tyrp1b/Tyrp1b

Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
integument
• eunmelanin is brown rather than black

pigmentation
• eunmelanin is brown rather than black
• eunmelanin is brown rather than black
• cell shape is spheroid rather than ovoid

vision/eye
• eunmelanin is brown rather than black


Mouse Genome Informatics
cx116
    a/a
Mlphln/Mlphln

Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
integument
• 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

pigmentation
• 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