All Phenotypes Tyr<c-2J> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tyr^c-2J/Tyr^c-2J	B6(Cg)-Tyr^c-2J/J	MGI:3581209
hm2	Tyr^c-2J/Tyr^c-2J	involves: C57BL/6	MGI:3794759
cn3	Ifnb1^tm2.1Lien/Ifnb1^tm2.1Lien Tyr^c-2J/Tyr^c-2J Lyz2^tm1(cre)Ifo/Lyz2⁺	involves: 129P2/OlaHsd * C57BL/6	MGI:5007898
cn4	Ifnb1^tm2.1Lien/Ifnb1^tm2.1Lien Tg(Itgax-cre)1-1Reiz/0 Tyr^c-2J/Tyr^c-2J	involves: C57BL/6 * CBA	MGI:5007897
cx5	Cyp1b1^tm1Gonz/Cyp1b1^tm1Gonz Tyr^c-2J/Tyr^c-2J	B6.Cg-Tyr^c-2J Cyp1b1^tm1Gonz	MGI:3655823
cx6	Foxc1^tm1Blh/Foxc1⁺ Tyr^c-2J/Tyr^c-2J	B6.Cg-Tyr^c-2J Foxc1^tm1Blh	MGI:3655825
cx7	Gpnmb^R150X/Gpnmb^R150X Tyr^c-2J/Tyr^c-2J Tyrp1^b/Tyrp1^b	B6.Cg-Tyrp1^b Gpnmb^R150X Tyr^c-2J	MGI:3773287
cx8	Plin2^tm1Itl/Plin2^tm1Itl Rpe65^tm1Tmr/Rpe65^tm1Tmr Tyr^c-2J/Tyr^c-2J	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * BALB/c * C57BL/6	MGI:3820659
cx9	Ltf^{tm1(icre)Tdku}/Ltf^{tm1(icre)Tdku} Tyr^c-2J/Tyr^c-2J	involves: 129S6/SvEvTac * C57BL/6	MGI:5581967
cx10	Ifnb1^tm2.1Lien/Ifnb1^tm2.1Lien Tyr^c-2J/Tyr^c-2J	involves: C57BL/6	MGI:5007896

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

pigmentation

absent coat pigmentation ( J:27522 , J:178454 )

• albino coat (J:27522)

• nitisinone treatment has no effect on pigmentation (J:178454)

absent skin pigmentation ( J:36008 )

ocular albinism ( J:141035 , J:178454 )

• total iris albinism (J:141035)

abnormal melanosome morphology ( J:178454 )

• absence of pigment in melanosomes

absent hair follicle melanin granules ( J:6611 )

• forskolin treatment does not protect mice from UV effects; numbers of apoptotic epidermal keratinocytes are similar to those in vehicle-treated mutants

vision/eye

ocular albinism ( J:141035 , J:178454 )

• total iris albinism (J:141035)

abnormal aqueous drainage system morphology ( J:82280 )

• had mild focal angle developmental defects, whereas pigmented mice had no observed defects

abnormal retina morphology ( J:77026 )

• 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

abnormal retina photoreceptor morphology ( J:99554 )

• Background Sensitivity: mean synaptic ribbon length is decreased in comparison to C57BL/6J

decreased retina photoreceptor cell number ( J:92276 )

• increased apoptosis in outer nuclear layer during adulthood (2-12 months), then decreasing to control levels

abnormal retina ganglion layer morphology ( J:77026 )

• beginning at E11 through E16, cells exhibit smaller size and abnormal packing and organization

retina degeneration ( J:92276 )

abnormal eye physiology ( J:99553 )

• resistant to light damage as compared to albino BALB/cByJ

decreased a-wave amplitude ( J:92276 )

• reduction in a-wave and b-wave amplitude in young adults as demonstrated by electroretinogram

decreased b-wave amplitude ( J:92276 )

• reduction in a-wave and b-wave amplitude in young adults as demonstrated by electroretinogram

abnormal intraocular pressure ( J:82879 )

• increased pressure as compared to pigmented C57BL/6J

abnormal vision ( J:99554 )

• dark-adapted threshold s are elevated (decreased sensitivity) in comparison to C57BL/6J

nervous system

abnormal retina photoreceptor morphology ( J:99554 )

• Background Sensitivity: mean synaptic ribbon length is decreased in comparison to C57BL/6J

decreased retina photoreceptor cell number ( J:92276 )

• increased apoptosis in outer nuclear layer during adulthood (2-12 months), then decreasing to control levels

cellular

increased cellular sensitivity to ionizing radiation ( J:112959 )

• mice show dose-dependent DNA lesion formation (cyclobutane dimers) from UV-B exposure, but wild-type or forskolin-treated Mc1r^e mutants show little damage

abnormal keratinocyte apoptosis ( J:112959 )

integument

abnormal keratinocyte apoptosis ( J:112959 )

absent hair follicle melanin granules ( J:6611 )

• forskolin treatment does not protect mice from UV effects; numbers of apoptotic epidermal keratinocytes are similar to those in vehicle-treated mutants

absent coat pigmentation ( J:27522 , J:178454 )

• albino coat (J:27522)

• nitisinone treatment has no effect on pigmentation (J:178454)

absent skin pigmentation ( J:36008 )

Mouse Models of Human Disease	DO ID	OMIM ID(s)	Ref(s)
buphthalmos	DOID:11211	OMIM:231300	J:82280
oculocutaneous albinism	DOID:0050632	OMIM:PS203100	J:178454

Allelic Composition	Tyr^c-2J/Tyr^c-2J
Genetic Background	involves: C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tyr^c-2J mutation (25 available); any Tyr mutation (375 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

pigmentation

absent skin pigmentation ( J:6611 )

• mice lack pigmentation in the skin and eyes

• mice lack detectable amounts of melanin in the hairbulbs

integument

absent skin pigmentation ( J:6611 )

• mice lack pigmentation in the skin and eyes

• mice lack detectable amounts of melanin in the hairbulbs

Allelic Composition	Ifnb1^tm2.1Lien/Ifnb1^tm2.1Lien Tyr^c-2J/Tyr^c-2J Lyz2^tm1(cre)Ifo/Lyz2⁺
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ifnb1^tm2.1Lien mutation (0 available); any Ifnb1 mutation (20 available)
Lyz2^tm1(cre)Ifo mutation (14 available); any Lyz2 mutation (41 available)
Tyr^c-2J mutation (25 available); any Tyr mutation (375 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

immune system

decreased circulating interferon-alpha level ( J:172226 )

• following L. monocytogenes infection

decreased circulating interferon-beta level ( J:172226 )

• following L. monocytogenes infection

decreased susceptibility to bacterial infection ( J:172226 )

• 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

decreased circulating interferon-alpha level ( J:172226 )

• following L. monocytogenes infection

decreased circulating interferon-beta level ( J:172226 )

• following L. monocytogenes infection

Allelic Composition	Ifnb1^tm2.1Lien/Ifnb1^tm2.1Lien Tg(Itgax-cre)1-1Reiz/0 Tyr^c-2J/Tyr^c-2J
Genetic Background	involves: C57BL/6 * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ifnb1^tm2.1Lien mutation (0 available); any Ifnb1 mutation (20 available)
Tg(Itgax-cre)1-1Reiz mutation (4 available)
Tyr^c-2J mutation (25 available); any Tyr mutation (375 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

immune system

immune system phenotype ( J:172226 )

N	• mice exhibit normal response to L. monocytogenes infection

Allelic Composition	Cyp1b1^tm1Gonz/Cyp1b1^tm1Gonz Tyr^c-2J/Tyr^c-2J
Genetic Background	B6.Cg-Tyr^c-2J Cyp1b1^tm1Gonz

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cyp1b1^tm1Gonz mutation (4 available); any Cyp1b1 mutation (26 available)
Tyr^c-2J mutation (25 available); any Tyr mutation (375 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

vision/eye

abnormal iridocorneal angle ( J:82280 )

• Background Sensitivity: albino Tyr^c-2J homozygous mice have severe and more extensive angle developmental defects than pigmented Cyp1b1^tm1Gonz/Cyp1b1^tm1Gonz mice

• L-dopa administered via pregnant mother throughout ocular development prevents the severe angle dysgenesis

absent Schlemm's canal ( J:82280 )

• a small or absent Schlemm's canal

abnormal trabecular meshwork morphology ( J:82280 )

• basal lamina extends from the cornea over the trabecular meshwork

anterior iris synechia ( J:82280 )

• attachments of the iris to the trabecular meshwork and peripheral cornea

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
buphthalmos		DOID:11211	OMIM:231300	J:82280

Allelic Composition	Foxc1^tm1Blh/Foxc1⁺ Tyr^c-2J/Tyr^c-2J
Genetic Background	B6.Cg-Tyr^c-2J Foxc1^tm1Blh

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxc1^tm1Blh mutation (0 available); any Foxc1 mutation (29 available)
Tyr^c-2J mutation (25 available); any Tyr mutation (375 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

vision/eye

abnormal aqueous drainage system morphology ( J:82280 )

• albino mice had severe and more extensive angle developmental defects than pigmented Foxc1^tm1Blh /Foxc1⁺ mice

absent Schlemm's canal ( J:82280 )

• a small or absent Schlemm's canal

abnormal trabecular meshwork morphology ( J:82280 )

• basal lamina extending from the cornea over the trabecular meshwork

iris synechia ( J:82280 )

• broad synechiae occupies the region where the trabecular meshwork is normally located

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
buphthalmos		DOID:11211	OMIM:231300	J:82280

Allelic Composition	Gpnmb^R150X/Gpnmb^R150X Tyr^c-2J/Tyr^c-2J Tyrp1^b/Tyrp1^b
Genetic Background	B6.Cg-Tyrp1^b Gpnmb^R150X Tyr^c-2J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gpnmb^R150X mutation (4 available); any Gpnmb mutation (39 available)
Tyr^c-2J mutation (25 available); any Tyr mutation (375 available)
Tyrp1^b mutation (29 available); any Tyrp1 mutation (162 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

Tyrosinase deficiency prevents iris disease in Gpnmb^R150X/Gpnmb^R150X Tyrp1^b/Tyrp1^b Tyr^c-2J/Tyr^c-2J mice

vision/eye

vision/eye phenotype ( J:128215 )

N	• triple mutants do not develop iris disease as seen in double Gpnmb^R150X and Tyrp1^bmice

Allelic Composition	Plin2^tm1Itl/Plin2^tm1Itl Rpe65^tm1Tmr/Rpe65^tm1Tmr Tyr^c-2J/Tyr^c-2J
Genetic Background	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * BALB/c * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Plin2^tm1Itl mutation (0 available); any Plin2 mutation (37 available)
Rpe65^tm1Tmr mutation (0 available); any Rpe65 mutation (48 available)
Tyr^c-2J mutation (25 available); any Tyr mutation (375 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

homeostasis/metabolism

abnormal vitamin A metabolism ( J:142021 )

• at 3 to 4 months, retinyl ester accumulation is 70% of the accumulation observed in Rpe65^tm1Tmr homozygotes

Allelic Composition	Ltf^{tm1(icre)Tdku}/Ltf^{tm1(icre)Tdku} Tyr^c-2J/Tyr^c-2J
Genetic Background	involves: 129S6/SvEvTac * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ltf^{tm1(icre)Tdku} mutation (1 available); any Ltf mutation (40 available)
Tyr^c-2J mutation (25 available); any Tyr mutation (375 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

normal phenotype

no abnormal phenotype detected ( J:211105 )

• mice are viable and fertile

Allelic Composition	Ifnb1^tm2.1Lien/Ifnb1^tm2.1Lien Tyr^c-2J/Tyr^c-2J
Genetic Background	involves: C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ifnb1^tm2.1Lien mutation (0 available); any Ifnb1 mutation (20 available)
Tyr^c-2J mutation (25 available); any Tyr mutation (375 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

immune system

immune system phenotype ( J:172226 )

N	• mice exhibit normal response to L. monocytogenes infection

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