Mouse Genome Informatics
hm1
    A/A
Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
normal phenotype

pigmentation
N
• wild-type coat color created by hairs with a black base, yellow subterminal band, and black tip (J:36414)


Mouse Genome Informatics
ht2
    Ahvy/A
C3H/HeJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• Background Sensitivity: amount and distribution of yellow pigment (phaeomelanin) relative to black or brown pigment (eumelanin) is variably increased or decreased compared with a wild-type agouti pattern resulting in a range of coat color from creamy yellow to black
• this coat pigmentation is seen when yellow pigment (phaeomelanin) is minimal; the coat resembles non-agouti black
• a creamy yellow coat color predominates but black striping or patches are seen on the back and/or belly
• black striping or patches are frequently seen on the back and/or belly; the remainder of the coat is creamy yellow

integument
• Background Sensitivity: amount and distribution of yellow pigment (phaeomelanin) relative to black or brown pigment (eumelanin) is variably increased or decreased compared with a wild-type agouti pattern resulting in a range of coat color from creamy yellow to black
• this coat pigmentation is seen when yellow pigment (phaeomelanin) is minimal; the coat resembles non-agouti black
• a creamy yellow coat color predominates but black striping or patches are seen on the back and/or belly
• black striping or patches are frequently seen on the back and/or belly; the remainder of the coat is creamy yellow


Mouse Genome Informatics
ht3
    Aiy/A
C3H/HeJ-Aiy
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• heterozygotes and homozygotes are indistinguishable
• color ranges from very sooty yellow to indistinguishable from wild-type agouti
• ventrum is slightly lighter than dorsal pigmentation
• mottling is variable

growth/size
• become obese as adults

integument
• heterozygotes and homozygotes are indistinguishable
• color ranges from very sooty yellow to indistinguishable from wild-type agouti
• ventrum is slightly lighter than dorsal pigmentation
• mottling is variable

Mouse Models of Human Disease
OMIM IDRef(s)
Obesity 601665 J:30922


Mouse Genome Informatics
ht4
    Ay/A
C3HeB/FeJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
integument

pigmentation


Mouse Genome Informatics
ht5
    Aw-47J/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
ht6
    A/atl
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
• pale colored belly fur

pigmentation
• pale colored belly fur


Mouse Genome Informatics
ht7
    Ay/A
involves: C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
adipose tissue
• female mice have a 6-fold gain in weight of BAT compared to littermate controls
• female mice have almost a 4-fold gain in percentage of body fat compared to littermate controls
• male mice have almost a 1.8-fold gain in percentage of body fat compared to littermate controls
• female mice have almost a 7-fold gain in weight of fat pad
• female mice have a greater than 6-fold gain in weight of fat pad
• female mice have almost a 6-fold gain in weight of fat pad

behavior/neurological
• 18 week old mice eat about 1.4 times more food during a 7 day period compared to wild-type controls
• the locomotor activity of mice is about half that of wild-type mice

growth/size
• female mice have almost a 4-fold gain in percentage of body fat compared to littermate controls
• male mice have almost a 1.8-fold gain in percentage of body fat compared to littermate controls
• by 23 weeks of age, female mice have almost double the weight compared to their wild-type littermate controls
• female but not male mice have a significant 5% increase in their body length
• mice gain weight at a greater rate than littermate controls starting at six weeks of age

homeostasis/metabolism
• circulating levels of leptin are over 12-fold higher compared to littermate controls

liver/biliary system
• female mice have almost a 2-fold gain in weight of the liver

pigmentation
• mice have a yellow coat color

integument
• mice have a yellow coat color

Mouse Models of Human Disease
OMIM IDRef(s)
Obesity 601665 J:131039


Mouse Genome Informatics
ht8
    Ay-Jkn/A
involves: C57BL/6N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• mice have a pale yellow coat color
• the color is paler than observed in Mc1re homozygotes

integument
• mice have a pale yellow coat color
• the color is paler than observed in Mc1re homozygotes


Mouse Genome Informatics
ht9
    A/atwp
Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• dorsum is agouti, ventrum white
• this allele is recessive on the dorsum, dominant on the ventrum
• ventral coat color is white, identical to the color and pattern of a Aw/- mouse
• this allele is dominant to A on the ventrum

integument
• dorsum is agouti, ventrum white
• this allele is recessive on the dorsum, dominant on the ventrum
• ventral coat color is white, identical to the color and pattern of a Aw/- mouse
• this allele is dominant to A on the ventrum


Mouse Genome Informatics
cx10
    As/As
A/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
• amount of yellow pigment produced by an agouti genotype is reduced and coat is darker than expected
• the normally yellow pinna hairs for all agouti alleles except ae are black (or brown on a homozygous brown background)

integument
• amount of yellow pigment produced by an agouti genotype is reduced and coat is darker than expected
• the normally yellow pinna hairs for all agouti alleles except ae are black (or brown on a homozygous brown background)


Mouse Genome Informatics
cx11
    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
cx12
    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
cx13
    Ay/A
Prkar2btm2Gsm/Prkar2btm2Gsm

involves: C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
adipose tissue
• female mice have a 2-fold gain in mg of BAT compared to littermate controls
• female and male mice have a 1.6-fold gain in percentage of body fat compared to littermate controls
• female mice have almost a 2-fold increase in fat pad weight compared to wild-type controls
• female mice have about a 2-fold increase in fat pad weight compared to wild-type controls
• female mice have about a 2-fold increase in fat pad weight compared to wild-type controls

behavior/neurological
N
• food consumption and circulating levels of leptin are close to wild-type levels, which is significantly less compared to mice with only the Ay mutant allele (J:131039)
• locomotor activity is about 1.5-fold higher compared to wild-type control mice

growth/size
N
• mean body weight and length of 20-23 week old mice is similar to wild-type littermate controls and is less than is observed in mice with only the Ay mutant allele (J:131039)
• weight and percentage of body fat in female mice is higher than in wild-type mice but is significantly lower than is observed in mice with only the Ay mutant allele (J:131039)
• female and male mice have a 1.6-fold gain in percentage of body fat compared to littermate controls
• male but not female mice gain weight at a greater rate than littermate controls starting at six weeks of age
• rate of weight gain in male mice is significantly less than in Ay heterozygotes

pigmentation
• mice have a yellow coat color

integument
• mice have a yellow coat color


Mouse Genome Informatics
cx14
    Ay/A
Prkar2btm2Gsm/Prkar2b+

involves: C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
adipose tissue
• mice have increased percentage of body fat but is 10% less than what is observed in Ay heterozygotes

behavior/neurological
• mice have a higher food consumption but is about 10% less than the amount Ay heterozygotes consume

growth/size
• mice have increased percentage of body fat but is 10% less than what is observed in Ay heterozygotes
• mice have increased rate of weight growth compared to wild-type mice but significantly less than in Ay heterozygotes


Mouse Genome Informatics
cx15
    Ay-Jkn/A
Mc1re/Mc1re

involves: C57BL/6Ha * C57BL/6N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• mice have a pale yellow coat color
• the yellow color is darker than what is observed in Ay-Jknheterozygotes

integument
• mice have a pale yellow coat color
• the yellow color is darker than what is observed in Ay-Jknheterozygotes


Mouse Genome Informatics
cx16
    Ay-Jkn/A
Mc1re/Mc1re
Tg(MC1R)1Jkn/0

involves: C57BL/6Ha * C57BL/6N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• mice have a pale yellow coat color
• the yellow color is darker than what is observed in Ay-Jkn heterozygotes

integument
• mice have a pale yellow coat color
• the yellow color is darker than what is observed in Ay-Jkn heterozygotes


Mouse Genome Informatics
cx17
    Avy/A
Smchd1MommeD1/Smchd1+

involves: C57BL/6J * FVB/NJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• more female pups with yellow coat color are produced when a MommeD1 sire is crossed with a psuedoagouti dam but not when the reciprocal cross is made

integument
• more female pups with yellow coat color are produced when a MommeD1 sire is crossed with a psuedoagouti dam but not when the reciprocal cross is made


Mouse Genome Informatics
cx18
    Avy/A
Dnmt1MommeD2/Dnmt1+

involves: C57BL/6J * FVB/NJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• more female pups with yellow coat color are produced when a MommeD1 dam is crossed with a psuedoagouti sire but not when the reciprocal cross is made

integument
• more female pups with yellow coat color are produced when a MommeD1 dam is crossed with a psuedoagouti sire but not when the reciprocal cross is made


Mouse Genome Informatics
cx19
    Avy/A
Smarca5MommeD4/Smarca5+

involves: C57BL/6J * FVB/NJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• when a MommeD4 sire is mated to a yellow dam offspring with the MommeD4 allele are more likely to be mottled

integument
• when a MommeD4 sire is mated to a yellow dam offspring with the MommeD4 allele are more likely to be mottled


Mouse Genome Informatics
cx20
    A/A
Dkd/Dkd

LPT;C3-Dkd/GrsrJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Phenotype of Dkd/Dkd mouse

pigmentation
• a darkened dorsal stripe if seen when the first coat comes in

hearing/vestibular/ear
N
• ABR assessment at 4 weeks of age is normal (J:137334)

vision/eye
N
• eyes are normal by ophthalmoscopic examination at 4 weeks of age (J:137334)

integument
• a darkened dorsal stripe if seen when the first coat comes in


Mouse Genome Informatics
cx21
    A/?
Lystbg/Lystbg
Tyrp1b/Tyrp1b

Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• on an agouti brown (A-bb) background, beige mice exhibit an overall cafe-au-lait coat color
• Background Sensitivity: the relatively greater dilution effect noted on basal hair is not as pronounced in brown beige as in black beige mice
• Background Sensitivity: on an agouti brown (A-bb) background, newborn beige mice exhibit lighter eyes than on an agouti black (A-B-) background

vision/eye
• Background Sensitivity: on an agouti brown (A-bb) background, newborn beige mice exhibit lighter eyes than on an agouti black (A-B-) background

integument
• on an agouti brown (A-bb) background, beige mice exhibit an overall cafe-au-lait coat color
• Background Sensitivity: the relatively greater dilution effect noted on basal hair is not as pronounced in brown beige as in black beige mice


Mouse Genome Informatics
cx22
    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
cx23
    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
• U modifies agouti dominance: when U is homozygous there is a marked darkening in A/A mice; when U is heterozygotes the darkening is somewhat less (J:280)
• the coat is darkened relative to the number of copies of U and a as follows: A/a; U/U > A/a; U/u = A/A; U/U > A/A; U/u = A/a; u/u > A/A; u/u (J:78801)

integument
• U modifies agouti dominance: when U is homozygous there is a marked darkening in A/A mice; when U is heterozygotes the darkening is somewhat less (J:280)
• the coat is darkened relative to the number of copies of U and a as follows: A/a; U/U > A/a; U/u = A/A; U/U > A/A; U/u = A/a; u/u > A/A; u/u (J:78801)


Mouse Genome Informatics
cx24
    at/A
As/As+

Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• only the agouti allele on the same chromosome as the As allele is affected
• the expected cream belly is not seen for this genotype; the mouse looks normal agouti

integument
• only the agouti allele on the same chromosome as the As allele is affected
• the expected cream belly is not seen for this genotype; the mouse looks normal agouti


Mouse Genome Informatics
cx25
    A/?
Lystbg/Lystbg
Tyrp1+/?

Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• on an agouti black (A-B-) background, mice exhibit reduced ear pigmentation relative to wild-type controls
• on an agouti black (A-B-) background, mice exhibit a lighter coat color than wild-type controls, particularly at the base of the hairs
• basal dilution is first noted at ~15 days of age, is somewhat variable, and tends to become darker in older mice
• on an agouti black (A-B-) background, mutant dorsal hairs have a yellow subterminal band, a dark grey middle portion, and usually a very light grey base
• basal dilution is first noted at ~15 days of age, is somewhat variable, and tends to become darker in older mice
• on an agouti black (A-B-) background, mice exhibit reduced tail pigmentation relative to wild-type controls
• on an agouti black (A-B-) background, the eye pigmentation of mice is only slight at birth but varies from ruby to almost black in adults

vision/eye
• on an agouti black (A-B-) background, the eye pigmentation of mice is only slight at birth but varies from ruby to almost black in adults

limbs/digits/tail
• on an agouti black (A-B-) background, mice exhibit reduced tail pigmentation relative to wild-type controls

craniofacial
• on an agouti black (A-B-) background, mice exhibit reduced ear pigmentation relative to wild-type controls

hearing/vestibular/ear
• on an agouti black (A-B-) background, mice exhibit reduced ear pigmentation relative to wild-type controls

integument
• on an agouti black (A-B-) background, mice exhibit reduced ear pigmentation relative to wild-type controls
• on an agouti black (A-B-) background, mice exhibit a lighter coat color than wild-type controls, particularly at the base of the hairs
• basal dilution is first noted at ~15 days of age, is somewhat variable, and tends to become darker in older mice
• on an agouti black (A-B-) background, mutant dorsal hairs have a yellow subterminal band, a dark grey middle portion, and usually a very light grey base
• basal dilution is first noted at ~15 days of age, is somewhat variable, and tends to become darker in older mice
• on an agouti black (A-B-) background, mice exhibit reduced tail pigmentation relative to wild-type controls

growth/size
• on an agouti black (A-B-) background, mice exhibit reduced ear pigmentation relative to wild-type controls


Mouse Genome Informatics
cx26
    A/A
Tyrc-ch/Tyrc-ch

Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
integument
• the contrasted effects of this genotype on eumelanin and phaeomelanin produces a grizzled color pattern or chinchilla effect
• reduced melanin content alters the wild-type agouti color to gray
• in this genotype yellow pigment in the hair shaft is reduced or absent

pigmentation
• reduced melanin content alters the wild-type agouti color to gray
• in this genotype yellow pigment in the hair shaft is reduced or absent


Mouse Genome Informatics
cx27
    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
integument
• the black pigment in the coat is reduced on this background to dark slate color but the yellow pigmented agouti band at the hair tips is barely reduced in intensity so mice of this genotype are a slightly lighter agouti

pigmentation
• the black pigment in the coat is reduced on this background to dark slate color but the yellow pigmented agouti band at the hair tips is barely reduced in intensity so mice of this genotype are a slightly lighter agouti