Mouse Genome Informatics
hm1
    Ay/Ay
101-Ay
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• putative homozygous embryos appear as small masses of vacuolated cells in decidual crypts at the time normal embryos are implanting; the abnormal embryo is resorbed within 36 hours
• Background Sensitivity: the genotype of the mother, with or without Ay, determines if a homozygous embryo dies at the initial stage of implantation or after the process begins

other phenotype
• introducing homozygous Ay embryos into the uterus of a wild-type mouse delays embryonic death until after implantation begins
• there are approximately twice the number of cells, development of a small ectoplacental cone and Reichert's membrane, and disintegration of the decidual epithelium characteristic of an advanced implantation site


Mouse Genome Informatics
ht2
    Ay/Aw
129S1.C3-Ay/Aw Chr 19MOLF/Ei
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
tumorigenesis
• incidence of testicular germ cell tumors is decreased 24% compared to in 129S1/SvImJ-Chr 19/Na mice

growth/size


Mouse Genome Informatics
ht3
    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
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
    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
ht6
    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
cx7
    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
cx8
    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 Models of Human Disease
OMIM IDRef(s)
Abdominal Obesity-Metabolic Syndrome 605552 J:177084


Mouse Genome Informatics
cx9
    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
cx10
    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
cx11
    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
cx12
    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
cx13
    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
cx14
    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
cx15
    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
cx16
    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
cx17
    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
cx18
    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
cx19
    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
cx20
    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
cx21
    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
cx22
    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
cx23
    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
cx24
    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
cx25
    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
cx26
    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
cx27
    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
cx28
    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
cx29
    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
cx30
    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
cx31
    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
cx32
    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
cx33
    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
cx34
    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
cx35
    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
cx36
    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
cx37
    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
cx38
    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