Symbol
Name
ID
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Synonyms
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Aqp0, aquaporin 0, lens opacity, Lop, MIP26, shrivelled, Svl
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Genetic Map
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Sequence Map
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Mammalian
homology
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Sequences
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All sequences(17)
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Alleles
and
phenotypes
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All alleles(21) :
Gene trapped(15)
Spontaneous(5)
Radiation induced(1)
| Homozygotes have microphthalmia and lens opacity. Other defects may include degeneration of lens fiber cells, vacuolization of lens fibers and reduced gamma:alpha crystallin ratio. Heterozygotes have less severe forms of lens cataract and microphthalmia. |
Associated Human Diseases (2)
Alleles Annotated to Human Diseases (3)
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Polymorphisms
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SNPs within 2kb(18 from dbSNP Build 128)
SNPs within 2kb including multiple locations(20)
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Gene Ontology
(GO)
classifications
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Expression
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Literature Summary: (24 records)
Data Summary:
Assays (3)
Results (49)
Tissues (47)
Images (3)
Theiler Stages: 23,24,28
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Assay Type |
Assays |
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Results |
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RT-PCR |
1 |
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46 |
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Immunohistochemistry |
2 |
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3 |
cDNA source data(6)
External Resources:
Allen Brain Atlas
GEO
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Molecular
reagents
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All nucleic(11)
cDNA(9)
Primer pair(1)
Other(1)
Antibodies(1)
Microarray probesets(2)
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Other database
links
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Protein
domains
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Graphical View
of Protein Domain Structure
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References
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(Earliest)
J:285
PAGET OE,
"[Hereditary subcapsular cataract; a new dominant allelomorph in house mouse.]"
Z Indukt Abstamm Vererbungsl 1953;85(2):238-44
(Latest)
J:151683
Parreira KS et al.,
"Expression patterns of the aquaporin gene family during renal development: influence of genetic variability."
Pflugers Arch 2009 Aug;458(4):745-59
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All references(57)
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Other
accession IDs
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MGD-MRK-10701, MGD-MRK-11842, MGD-MRK-12240, MGD-MRK-14658, MGD-MRK-1767, MGI:96076
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