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| Nomenclature |
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Symbol:
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Nek1kat-2J
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Name:
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NIMA (never in mitosis gene a)-related expressed kinase 1;
kidney, anemia and testis 2 Jackson
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MGI ID: |
MGI:1858122 |
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Synonyms: |
kat2J, kat2J |
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Gene:
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Nek1
Location:
Chr8:60993195-61131346 bp, + strand
Genetic Position: Chr8,
30.91 cM
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Mutation
origin |
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Strain of Origin:
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C57BL/6J
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Insertion |
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G insertion at position 966 causes frameshift and premature stop (J:59363)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Notes |
Homozygous mutant mice have a latent onset, slowly progressing form of polycystic kidney disease (PKD) with renal pathology similar to the human autosomal-dominant PKD OMIM 173900, OMIM 600666). In addition, mutant mice show pleiotropic effects that include facial dysmorphism, dwarfing, male sterility, anemia, and cystic choroid plexus (J:59363).
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| References |
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Original: |
J:37799
Janaswami PM et al.,
"Identification and genetic mapping of a new polycystic kidney disease on mouse chromosome 8."
Genomics 1997 Feb 15;40(1):101-7
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All: |
6 reference(s)
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Analysis Tools
