Mouse Genome Informatics
hm1
    Tyrc-2J/Tyrc-2J
B6(Cg)-Tyrc-2J/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Tyrc-2J/Tyrc-2J

pigmentation
• albino coat (J:27522)
• nitisinone treatment has no effect on pigmentation (J:178454)
• total iris albinism (J:141035)
• absence of pigment in melanosomes
• forskolin treatment does not protect mice from UV effects; numbers of apoptotic epidermal keratinocytes are similar to those in vehicle-treated mutants

vision/eye
• total iris albinism (J:141035)
• had mild focal angle developmental defects, whereas pigmented mice had no observed defects
• increased total number of cells in temporal retina during E11-13
• sustained, early production of ipsilateral retinal ganglion cells up to E14
• increased surface area of temporal retina, as well as additional sectors during E11-13
• Background Sensitivity: mean synaptic ribbon length is decreased in comparison to C57BL/6J
• increased apoptosis in outer nuclear layer during adulthood (2-12 months), then decreasing to control levels
• beginning at E11 through E16, cells exhibit smaller size and abnormal packing and organization
• resistant to light damage as compared to albino BALB/cByJ
• reduction in a-wave and b-wave amplitude in young adults as demonstrated by electroretinogram
• reduction in a-wave and b-wave amplitude in young adults as demonstrated by electroretinogram
• increased pressure as compared to pigmented C57BL/6J
• dark-adapted threshold s are elevated (decreased sensitivity) in comparison to C57BL/6J

nervous system
• Background Sensitivity: mean synaptic ribbon length is decreased in comparison to C57BL/6J
• increased apoptosis in outer nuclear layer during adulthood (2-12 months), then decreasing to control levels

cellular
• mice show dose-dependent DNA lesion formation (cyclobutane dimers) from UV-B exposure, but wild-type or forskolin-treated Mc1re mutants show little damage

integument
• forskolin treatment does not protect mice from UV effects; numbers of apoptotic epidermal keratinocytes are similar to those in vehicle-treated mutants
• albino coat (J:27522)
• nitisinone treatment has no effect on pigmentation (J:178454)


Mouse Genome Informatics
hm2
    Tyrc-2J/Tyrc-2J
involves: C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• mice lack pigmentation in the skin and eyes
• mice lack detectable amounts of melanin in the hairbulbs

integument
• mice lack pigmentation in the skin and eyes
• mice lack detectable amounts of melanin in the hairbulbs


Mouse Genome Informatics
cn3
    Ifnb1tm2.1Lien/Ifnb1tm2.1Lien
Tyrc-2J/Tyrc-2J
Lyz2tm1(cre)Ifo/Lyz2+

involves: 129P2/OlaHsd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
immune system
• following L. monocytogenes infection
• following L. monocytogenes infection
• following L. monocytogenes infection, mice exhibit decreased circulating interferon-alpha and -beta and decreased bacterial numbers in the spleen and liver compared with wild-type mice

homeostasis/metabolism
• following L. monocytogenes infection
• following L. monocytogenes infection


Mouse Genome Informatics
cn4
    Ifnb1tm2.1Lien/Ifnb1tm2.1Lien
Tg(Itgax-cre)1-1Reiz/0
Tyrc-2J/Tyrc-2J

involves: C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
immune system
N
• mice exhibit normal response to L. monocytogenes infection (J:172226)


Mouse Genome Informatics
cx5
    Cyp1b1tm1Gonz/Cyp1b1tm1Gonz
Tyrc-2J/Tyrc-2J

B6.Cg-Tyrc-2J Cyp1b1tm1Gonz
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye
• Background Sensitivity: albino Tyrc-2J homozygous mice have severe and more extensive angle developmental defects than pigmented Cyp1b1tm1Gonz/Cyp1b1tm1Gonz mice
• L-dopa administered via pregnant mother throughout ocular development prevents the severe angle dysgenesis
• a small or absent Schlemm's canal
• basal lamina extends from the cornea over the trabecular meshwork
• attachments of the iris to the trabecular meshwork and peripheral cornea

Mouse Models of Human Disease
OMIM IDRef(s)
Glaucoma 3, Primary Congenital, A; GLC3A 231300 J:82280


Mouse Genome Informatics
cx6
    Foxc1tm1Blh/Foxc1+
Tyrc-2J/Tyrc-2J

B6.Cg-Tyrc-2J Foxc1tm1Blh
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye
• albino mice had severe and more extensive angle developmental defects than pigmented Foxc1tm1Blh /Foxc1+ mice
• a small or absent Schlemm's canal
• basal lamina extending from the cornea over the trabecular meshwork
• broad synechiae occupies the region where the trabecular meshwork is normally located

Mouse Models of Human Disease
OMIM IDRef(s)
Glaucoma 3, Primary Congenital, A; GLC3A 231300 J:82280


Mouse Genome Informatics
cx7
    GpnmbR150X/GpnmbR150X
Tyrc-2J/Tyrc-2J
Tyrp1b/Tyrp1b

B6.Cg-Tyrp1b GpnmbR150X Tyrc-2J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Tyrosinase deficiency prevents iris disease in GpnmbR150X/GpnmbR150X Tyrp1b/Tyrp1b Tyrc-2J/Tyrc-2J mice

vision/eye
N
• triple mutants do not develop iris disease as seen in double GpnmbR150X and Tyrp1bmice (J:128215)


Mouse Genome Informatics
cx8
    Plin2tm1Itl/Plin2tm1Itl
Rpe65tm1Tmr/Rpe65tm1Tmr
Tyrc-2J/Tyrc-2J

involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * BALB/c * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
homeostasis/metabolism
• at 3 to 4 months, retinyl ester accumulation is 70% of the accumulation observed in Rpe65tm1Tmr homozygotes


Mouse Genome Informatics
cx9
    Ltftm1(icre,EGFP)Tdku/Ltftm1(icre,EGFP)Tdku
Tyrc-2J/Tyrc-2J

involves: 129S6/SvEvTac * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
normal phenotype
• mice are viable and fertile


Mouse Genome Informatics
cx10
    Ifnb1tm2.1Lien/Ifnb1tm2.1Lien
Tyrc-2J/Tyrc-2J

involves: C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
immune system
N
• mice exhibit normal response to L. monocytogenes infection (J:172226)