Type |
Details |
Score |
Allele |
Name: |
hypoxanthine phosphoribosyltransferase 1; targeted mutation 72, Elizabeth M Simpson |
Allele Type: |
Targeted |
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Genotype |
Symbol: |
Hand2/Hand2 Tg(Pitx2-cre)1Ych/? |
Background: |
involves: 129S1/Sv * 129S7/SvEvBrd * C57BL/6 |
Zygosity: |
cn |
Has Mutant Allele: |
true |
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Genotype |
Symbol: |
Gsk3b/Gsk3b Tg(Pitx2-cre)1Ych/? |
Background: |
involves: 129S4/SvJaeSor * C57BL/6 |
Zygosity: |
cn |
Has Mutant Allele: |
true |
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Genotype |
Symbol: |
Rr52/Rr52 |
Background: |
FVB-Rr52 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
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Allele |
Name: |
paired box 6; targeted mutation 2, Peter Gruss |
Allele Type: |
Targeted |
Attribute String: |
Conditional ready, No functional change |
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Genotype |
Symbol: |
Pax6<1Jrt>/Pax6<+> |
Background: |
C3.B6-Pax6<1Jrt> |
Zygosity: |
ht |
Has Mutant Allele: |
true |
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Genotype |
Symbol: |
Pax6<3Neu>/Pax6<+> |
Background: |
either: (involves: 102 * C3H) or (involves: C3H) |
Zygosity: |
ht |
Has Mutant Allele: |
true |
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Genotype |
Symbol: |
Pax6<4Neu>/Pax6<+> |
Background: |
either: (involves: 102 * C3H) or (involves: C3H) |
Zygosity: |
ht |
Has Mutant Allele: |
true |
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Genotype |
Symbol: |
Pax6<7Neu>/Pax6<+> |
Background: |
involves: 102 * C3H |
Zygosity: |
ht |
Has Mutant Allele: |
true |
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DO Term |
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Strain |
Attribute String: |
targeted mutation, mutant strain, congenic |
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Genotype |
Symbol: |
Hprt1/? |
Background: |
B6.129P2(Cg)-Hprt1/Mmjax |
Zygosity: |
ot |
Has Mutant Allele: |
true |
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Genotype |
Symbol: |
Pax6/Pax6<+> Tg(Pax6-cre,GFP)1Pgr/? |
Background: |
involves: 129S1/Sv * 129X1/SvJ * FVB |
Zygosity: |
cn |
Has Mutant Allele: |
true |
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Publication |
First Author: |
Kheradmand Kia S |
Year: |
2012 |
Journal: |
Am J Hum Genet |
Title: |
RTTN mutations link primary cilia function to organization of the human cerebral cortex. |
Volume: |
91 |
Issue: |
3 |
Pages: |
533-40 |
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Publication |
First Author: |
Panda P |
Year: |
2020 |
Journal: |
J Cell Biol |
Title: |
Tissue specific requirement of Drosophila Rcd4 for centriole duplication and ciliogenesis. |
Volume: |
219 |
Issue: |
8 |
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Protein Domain |
Type: |
Family |
Description: |
Rotatin (RTTN) is a centriolar protein that appears to be required for cilia function []. Mouse RTTN is required for embryonic axial rotation, and left-right specification. It is essential for the correct expression of the key left-right specification genes nodal, lefty and Pitx2 []. The Drosophila homologue of rotatin, Anastral spindle 3 (Ana3), is needed for structural integrity of centrioles and basal bodies []and participates in the later stages of centriole assembly through the interaction with Rcd4 leading to the centriole to centrosome conversion []. Rotatin colocalizes with the basal bodies at the primary cilium, and has a role in cilia structure and function []. Mutations in RTTN have been identified in individuals with polymicrogyria, a malformation of the developing cerebral cortex []. |
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HT Experiment |
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Experiment Type: |
transcription profiling by array |
Study Type: |
WT vs. Mutant |
Source: |
GEO |
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Gene |
Type: |
gene |
Organism: |
human |
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Publication |
First Author: |
Stevens NR |
Year: |
2009 |
Journal: |
J Cell Biol |
Title: |
Ana3 is a conserved protein required for the structural integrity of centrioles and basal bodies. |
Volume: |
187 |
Issue: |
3 |
Pages: |
355-63 |
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Publication |
First Author: |
Hamada H |
Year: |
2001 |
Journal: |
Am J Med Genet |
Title: |
Role of asymmetric signals in left-right patterning in the mouse. |
Volume: |
101 |
Issue: |
4 |
Pages: |
324-7 |
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HT Experiment |
Series Id: |
GSE31583 |
Experiment Type: |
transcription profiling by array |
Study Type: |
WT vs. Mutant |
Source: |
ArrayExpress |
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Genotype |
Symbol: |
Gt(ROSA)26Sor/Gt(ROSA)26Sor<+> Tg(Pitx2-cre/ERT2)#Jfm/? |
Background: |
involves: 129S1/Sv * 129X1/SvJ * FVB |
Zygosity: |
cn |
Has Mutant Allele: |
true |
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Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
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Publication |
First Author: |
Hachisuga M |
Year: |
2015 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Hyperglycemia impairs left-right axis formation and thereby disturbs heart morphogenesis in mouse embryos. |
Volume: |
112 |
Issue: |
38 |
Pages: |
E5300-7 |
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Publication |
First Author: |
Xiong W |
Year: |
2009 |
Journal: |
Dev Biol |
Title: |
Hand2 is required in the epithelium for palatogenesis in mice. |
Volume: |
330 |
Issue: |
1 |
Pages: |
131-41 |
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Publication |
First Author: |
Kahr PC |
Year: |
2021 |
Journal: |
Dev Biol |
Title: |
A novel transgenic Cre allele to label mouse cardiac conduction system. |
Volume: |
478 |
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Pages: |
163-172 |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
2226
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Fragment?: |
false |
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Publication |
First Author: |
Bisgrove BW |
Year: |
2012 |
Journal: |
Dev Biol |
Title: |
RFX2 is essential in the ciliated organ of asymmetry and an RFX2 transgene identifies a population of ciliated cells sufficient for fluid flow. |
Volume: |
363 |
Issue: |
1 |
Pages: |
166-78 |
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Publication |
First Author: |
Gao S |
Year: |
2015 |
Journal: |
Hum Mol Genet |
Title: |
TBX1 protein interactions and microRNA-96-5p regulation controls cell proliferation during craniofacial and dental development: implications for 22q11.2 deletion syndrome. |
Volume: |
24 |
Issue: |
8 |
Pages: |
2330-48 |
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Publication |
First Author: |
Ocaña OH |
Year: |
2017 |
Journal: |
Nature |
Title: |
A right-handed signalling pathway drives heart looping in vertebrates. |
Volume: |
549 |
Issue: |
7670 |
Pages: |
86-90 |
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Publication |
First Author: |
Rulifson IC |
Year: |
2007 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Wnt signaling regulates pancreatic beta cell proliferation. |
Volume: |
104 |
Issue: |
15 |
Pages: |
6247-52 |
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Publication |
First Author: |
Figeac N |
Year: |
2019 |
Journal: |
J Cell Sci |
Title: |
VGLL3 operates via TEAD1, TEAD3 and TEAD4 to influence myogenesis in skeletal muscle. |
Volume: |
132 |
Issue: |
13 |
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Publication |
First Author: |
Johnson LL |
Year: |
2023 |
Journal: |
Invest Ophthalmol Vis Sci |
Title: |
Nystagmus Associated With the Absence of MYOD Expression Across the Lifespan in Extraocular and Limb Muscles. |
Volume: |
64 |
Issue: |
12 |
Pages: |
24 |
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Publication |
First Author: |
Coulon V |
Year: |
2007 |
Journal: |
J Biol Chem |
Title: |
A muscle-specific promoter directs Pitx3 gene expression in skeletal muscle cells. |
Volume: |
282 |
Issue: |
45 |
Pages: |
33192-200 |
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Publication |
First Author: |
Curtis CD |
Year: |
2012 |
Journal: |
Mol Cell Biol |
Title: |
The chromatin-remodeling enzymes BRG1 and CHD4 antagonistically regulate vascular Wnt signaling. |
Volume: |
32 |
Issue: |
7 |
Pages: |
1312-20 |
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Publication |
First Author: |
Venugopalan SR |
Year: |
2011 |
Journal: |
J Biol Chem |
Title: |
Hierarchical interactions of homeodomain and forkhead transcription factors in regulating odontogenic gene expression. |
Volume: |
286 |
Issue: |
24 |
Pages: |
21372-83 |
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Publication |
First Author: |
Ernst P |
Year: |
2004 |
Journal: |
Curr Biol |
Title: |
An Mll-dependent Hox program drives hematopoietic progenitor expansion. |
Volume: |
14 |
Issue: |
22 |
Pages: |
2063-9 |
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Publication |
First Author: |
See AW |
Year: |
2009 |
Journal: |
Dev Biol |
Title: |
The temporal requirement for vitamin A in the developing eye: mechanism of action in optic fissure closure and new roles for the vitamin in regulating cell proliferation and adhesion in the embryonic retina. |
Volume: |
325 |
Issue: |
1 |
Pages: |
94-105 |
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Publication |
First Author: |
Jumlongras D |
Year: |
2012 |
Journal: |
PLoS One |
Title: |
An evolutionarily conserved enhancer regulates Bmp4 expression in developing incisor and limb bud. |
Volume: |
7 |
Issue: |
6 |
Pages: |
e38568 |
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Publication |
First Author: |
He F |
Year: |
2010 |
Journal: |
Dev Dyn |
Title: |
Gsk3β is required in the epithelium for palatal elevation in mice. |
Volume: |
239 |
Issue: |
12 |
Pages: |
3235-46 |
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Publication |
First Author: |
Schneider A |
Year: |
1999 |
Journal: |
Curr Biol |
Title: |
The homeobox gene NKX3.2 is a target of left-right signalling and is expressed on opposite sides in chick and mouse embryos. |
Volume: |
9 |
Issue: |
16 |
Pages: |
911-4 |
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Publication |
First Author: |
Tsang TE |
Year: |
1999 |
Journal: |
Cell Mol Biol (Noisy-le-grand) |
Title: |
Experimental analysis of the emergence of left-right asymmetry of the body axis in early postimplantation mouse embryos. |
Volume: |
45 |
Issue: |
5 |
Pages: |
493-503 |
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Publication |
First Author: |
Kahr PC |
Year: |
2011 |
Journal: |
PLoS One |
Title: |
Systematic analysis of gene expression differences between left and right atria in different mouse strains and in human atrial tissue. |
Volume: |
6 |
Issue: |
10 |
Pages: |
e26389 |
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Publication |
First Author: |
Bourane S |
Year: |
2015 |
Journal: |
Science |
Title: |
Gate control of mechanical itch by a subpopulation of spinal cord interneurons. |
Volume: |
350 |
Issue: |
6260 |
Pages: |
550-4 |
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Publication |
First Author: |
Yang GS |
Year: |
2009 |
Journal: |
Genomics |
Title: |
Next generation tools for high-throughput promoter and expression analysis employing single-copy knock-ins at the Hprt1 locus. |
Volume: |
93 |
Issue: |
3 |
Pages: |
196-204 |
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Publication |
First Author: |
The Pleiades Promoter Project |
Year: |
2009 |
Journal: |
MGI Direct Data Submission |
Title: |
Generation of reporter and cre-expressing targeted transgenic mice in the Hprt1 gene using human MiniPromoters that drive region- and cell-specific gene expression in the mouse brain |
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Publication |
First Author: |
Portales-Casamar E |
Year: |
2010 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
A regulatory toolbox of MiniPromoters to drive selective expression in the brain. |
Volume: |
107 |
Issue: |
38 |
Pages: |
16589-94 |
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Publication |
First Author: |
The Gene Expression Nervous System Atlas (GENSAT) Project, The Rockefeller University (New York, NY) |
Year: |
2005 |
Journal: |
Database Download |
Title: |
MGI download of GENSAT transgene data |
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