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 (26 available); any Tyr mutation (379 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 (21 available)
Lyz2^tm1(cre)Ifo mutation (14 available); any Lyz2 mutation (40 available)
Tyr^c-2J mutation (26 available); any Tyr mutation (379 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 (21 available)
Tg(Itgax-cre)1-1Reiz mutation (4 available)
Tyr^c-2J mutation (26 available); any Tyr mutation (379 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 (26 available); any Tyr mutation (379 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 (26 available); any Tyr mutation (379 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 (43 available)
Tyr^c-2J mutation (26 available); any Tyr mutation (379 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 (38 available)
Rpe65^tm1Tmr mutation (1 available); any Rpe65 mutation (52 available)
Tyr^c-2J mutation (26 available); any Tyr mutation (379 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 (41 available)
Tyr^c-2J mutation (26 available); any Tyr mutation (379 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 (21 available)
Tyr^c-2J mutation (26 available); any Tyr mutation (379 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

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/19/2024 MGI 6.24