All Phenotypes Tmem30a<tm1.1Xjz> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Tmem30a^tm1.1Xjz/Tmem30a^tm1.1Xjz Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺	involves: 129S/SvEv * 129S4/SvJaeSor * C57BL/6J * DBA	MGI:6119462
cn2	Tmem30a^tm1.1Xjz/Tmem30a^tm1.1Xjz Tg(CAG-cre/Esr1*)5Amc/0	involves: 129/SvEv * C57BL/6 * CBA	MGI:6382630
cn3	Tmem30a^tm1.1Xjz/Tmem30a^tm1.1Xjz Tg(Six3-cre)69Frty/0	involves: 129/SvEv * C57BL/6 * DBA/2	MGI:6382635
cn4	Tmem30a^tm1.1Xjz/Tmem30a^tm1.1Xjz Tg(OPN1LW-cre)4Yzl/0	involves: 129/SvEv * C57BL/6J * FVB/N	MGI:6382628
cn5	Tmem30a^tm1.1Xjz/Tmem30a^tm1.1Xjz Tg(Nes-cre)1Kln/0	involves: 129/SvEv * C57BL/6 * SJL	MGI:6382637

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

liver/biliary system

bile duct proliferation ( J:249038 )

• according to Krt19 activity

liver inflammation ( J:249038 )

• significant lymphocyte and macrophage infiltration

• increased serum levels of Il6, Il18, Il10, Ifng, and Tnf

abnormal liver morphology ( J:249038 )

• more multinucleate hepatocytes and smaller hepatocytes when fed 0.5% sodium cholate-supplemented diet

decreased liver weight ( J:249038 )

• when fed 0.5% sodium cholate-supplemented diet

• when fed standard chow

liver fibrosis ( J:249038 )

• increased levels of Col1a1, Col3a1 and Tgfb

• exacerbated when fed 0.5% sodium cholate-supplemented diet

intrahepatic cholestasis ( J:249038 )

jaundice ( J:249038 )

• yellow serum at age 2 months on standard chow

• when fed 0.5% sodium cholate-supplemented diet

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:249038 )

N	• serum gamma-glutamyl transferase levels • plasma creatinine, blood urea nitrogen, and uric acid levels on normal chow or 0.5% sodium cholate-supplemented diet

increased circulating bilirubin level ( J:249038 )

• exacerbated when fed 0.5% sodium cholate-supplemented diet

• approximately 15-fold higher serum total bilirubin (TBIL) levels

• mainly increase in direct bilirubin (DBIL) levels; indirect bilirubin (IBIL) levels only slightly increased

increased circulating alanine transaminase level ( J:249038 )

• exacerbated when fed 0.5% sodium cholate-supplemented diet

increased circulating aspartate transaminase level ( J:249038 )

• exacerbated when fed 0.5% sodium cholate-supplemented diet

increased bile salt level ( J:249038 )

• approximately 20-fold higher serum total bile acid (TBA) levels

• dramatically increased serum unconjugated and conjugated bile acid levels; only small changes in hepatic and biliary bile salt species

• exacerbated when fed 0.5% sodium cholate-supplemented diet

increased alkaline phosphatase activity ( J:249038 )

• elevated plasma Alpl levels

• exacerbated when fed 0.5% sodium cholate-supplemented diet

growth/size/body

growth/size/body region phenotype ( J:249038 )

N	• cellular morphology of heart, kidney, lung, spleen, muscle, pancreas, and intestine when fed regular chow or 0.5% sodium cholate-supplemented diet

cachexia ( J:249038 )

• when fed 0.5% sodium cholate-supplemented diet

endocrine/exocrine glands

bile duct proliferation ( J:249038 )

• according to Krt19 activity

immune system

liver inflammation ( J:249038 )

• significant lymphocyte and macrophage infiltration

• increased serum levels of Il6, Il18, Il10, Ifng, and Tnf

behavior/neurological

slow movement ( J:249038 )

• when fed 0.5% sodium cholate-supplemented diet

skeleton

abnormal spine curvature ( J:249038 )

• when fed 0.5% sodium cholate-supplemented diet

Allelic Composition	Tmem30a^tm1.1Xjz/Tmem30a^tm1.1Xjz Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background	involves: 129/SvEv * C57BL/6 * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(CAG-cre/Esr1*)5Amc mutation (10 available)
Tmem30a^tm1.1Xjz mutation (0 available); any Tmem30a mutation (30 available)

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

vision/eye

decreased retina ganglion cell number ( J:253580 )

• at age P27 after tamoxifen administration at P20

• normal at age P25 after tamoxifen administration at P20

absent photoreceptor outer segment ( J:253580 )

• absent OS at age P30 after tamoxifen administration at P20

• present at age P25 after tamoxifen administration at P20

short photoreceptor outer segment ( J:253580 )

• at age P27 after tamoxifen administration at P20

• normal at age P25 after tamoxifen administration at P20

photoreceptor outer segment degeneration ( J:253580 )

• normal at age P25 after tamoxifen administration at P20

• absent OS at age P30 after tamoxifen administration at P20

thin retina outer nuclear layer ( J:253580 )

• 50% reduction in thickness at age P27 after tamoxifen administration at P20

• 2-3 cells per row (compared to 10-11) at age P30 after tamoxifen administration at P20

• normal at age P25 after tamoxifen administration at P20

abnormal cone electrophysiology ( J:253580 )

• 50% reduction in a-wave amplitude with scotopic ERG at age P27 after tamoxifen administration at P20

• 40% reduction in b-wave amplitude with scotopic ERG at age P27 after tamoxifen administration at P20

• normal scotopic ERG at age P25 after tamoxifen administration at P20

nervous system

decreased retina ganglion cell number ( J:253580 )

• at age P27 after tamoxifen administration at P20

• normal at age P25 after tamoxifen administration at P20

absent photoreceptor outer segment ( J:253580 )

• absent OS at age P30 after tamoxifen administration at P20

• present at age P25 after tamoxifen administration at P20

short photoreceptor outer segment ( J:253580 )

• at age P27 after tamoxifen administration at P20

• normal at age P25 after tamoxifen administration at P20

photoreceptor outer segment degeneration ( J:253580 )

• normal at age P25 after tamoxifen administration at P20

• absent OS at age P30 after tamoxifen administration at P20

Allelic Composition	Tmem30a^tm1.1Xjz/Tmem30a^tm1.1Xjz Tg(Six3-cre)69Frty/0
Genetic Background	involves: 129/SvEv * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Six3-cre)69Frty mutation (2 available)
Tmem30a^tm1.1Xjz mutation (0 available); any Tmem30a mutation (30 available)

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

vision/eye

absent retina ( J:253580 )

• retina absent at age 2 months

retina degeneration ( J:253580 )

• significant loss of neural cells at age P12

• retina absent at age 2 months

Allelic Composition	Tmem30a^tm1.1Xjz/Tmem30a^tm1.1Xjz Tg(OPN1LW-cre)4Yzl/0
Genetic Background	involves: 129/SvEv * C57BL/6J * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(OPN1LW-cre)4Yzl mutation (1 available)
Tmem30a^tm1.1Xjz mutation (0 available); any Tmem30a mutation (30 available)

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

nervous system

abnormal retina cone cell morphology ( J:253580 )

• significant reduction in M-opsin expression

• mislocalization of M-opsin to inner segment (IS) and cell bodies at age P16

absent retina cone cells ( J:253580 )

• normal cone cell number at age P16

• no cone cells in outer segment at age P42

retina cone cell degeneration ( J:253580 )

• normal cone cell number at age P16

• no cone cells in outer segment at age P42

vision/eye

abnormal retina cone cell morphology ( J:253580 )

• significant reduction in M-opsin expression

• mislocalization of M-opsin to inner segment (IS) and cell bodies at age P16

absent retina cone cells ( J:253580 )

• normal cone cell number at age P16

• no cone cells in outer segment at age P42

retina cone cell degeneration ( J:253580 )

• normal cone cell number at age P16

• no cone cells in outer segment at age P42

abnormal cone electrophysiology ( J:253580 )

• no a- or b-wave with photopic ERG

Allelic Composition	Tmem30a^tm1.1Xjz/Tmem30a^tm1.1Xjz Tg(Nes-cre)1Kln/0
Genetic Background	involves: 129/SvEv * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Nes-cre)1Kln mutation (4 available)
Tmem30a^tm1.1Xjz mutation (0 available); any Tmem30a mutation (30 available)

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

mortality/aging

embryonic lethality, complete penetrance ( J:253580 )

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