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 )

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

• exacerbated when fed 0.5% sodium cholate-supplemented diet

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

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 (9 available)
Tmem30a^tm1.1Xjz mutation (0 available); any Tmem30a mutation (29 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 )

• absent OS at age P30 after tamoxifen administration at P20

• normal at age P25 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 (29 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 (29 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 (29 available)

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

mortality/aging

embryonic lethality, complete penetrance ( J:253580 )

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 05/14/2024 MGI 6.23