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Gene Expression Literature Summary
Symbol
Name
ID
Asph
aspartate-beta-hydroxylase
MGI:1914186

7 matching records from 7 references.

Summary by Age and Assay: Numbers in the table indicate the number of results matching the search criteria.
Age E7.5 E8.5 E10.5 E11.5 E12.5 E13.5 E14 E14.5 E16.5 E17 E18 E18.5 P
Immunohistochemistry (section) 1 1 1
In situ RNA (whole mount) 1 1
Western blot 1 1
RT-PCR 1 1 2 1 1 1 2 1 1 1 4

Summary by Gene and Reference: Number indicates the number of results matching the search criteria recorded for each reference.
* Indicates detailed expression data entries available
Asph  aspartate-beta-hydroxylase   (Synonyms: 2310005F16Rik, 3110001L23Rik, aspartyl beta-hydroxylase, BAH, calsequestrin-binding protein, cI-37, jumbug, junctate, Junctin)
Results  Reference
2J:149480 Feng Y, Valley MT, Lazar J, Yang AL, Bronson RT, Firestein S, Coetzee WA, Manley JL, SRp38 regulates alternative splicing and is required for Ca(2+) handling in the embryonic heart. Dev Cell. 2009 Apr;16(4):528-38
8*J:97586 Hong S, Kim TW, Choi I, Woo JM, Oh J, Park WJ, Kim do H, Cho C, Complementary DNA cloning, genomic characterization and expression analysis of a mammalian gene encoding histidine-rich calcium binding protein. Biochim Biophys Acta. 2005 Mar 10;1727(3):188-96
3*J:142671 Kalsotra A, Xiao X, Ward AJ, Castle JC, Johnson JM, Burge CB, Cooper TA, A postnatal switch of CELF and MBNL proteins reprograms alternative splicing in the developing heart. Proc Natl Acad Sci U S A. 2008 Dec 23;105(51):20333-8
1J:193822 Lumayag S, Haldin CE, Corbett NJ, Wahlin KJ, Cowan C, Turturro S, Larsen PE, Kovacs B, Witmer PD, Valle D, Zack DJ, Nicholson DA, Xu S, Inactivation of the microRNA-183/96/182 cluster results in syndromic retinal degeneration. Proc Natl Acad Sci U S A. 2013 Feb 5;110(6):E507-16
5*J:229861 Patel N, Khan AO, Mansour A, Mohamed JY, Al-Assiri A, Haddad R, Jia X, Xiong Y, Megarbane A, Traboulsi EI, Alkuraya FS, Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome. Am J Hum Genet. 2014 May 1;94(5):755-9
1*J:100636 Wang KS, Zahn LE, Favor J, Huang KM, Stambolian D, Genetic and phenotypic analysis of Tcm, a mutation affecting early eye development. Mamm Genome. 2005 May;16(5):332-43
3J:223139 Ye J, Beetz N, O'Keeffe S, Tapia JC, Macpherson L, Chen WV, Bassel-Duby R, Olson EN, Maniatis T, hnRNP U protein is required for normal pre-mRNA splicing and postnatal heart development and function. Proc Natl Acad Sci U S A. 2015 Jun 9;112(23):E3020-9

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)
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last database update
08/13/2019
MGI 6.14
The Jackson Laboratory