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| Nomenclature |
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Symbol:
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Gnrhrhh
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Name:
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gonadotropin releasing hormone receptor;
hypogonadotrophic hypogonadism
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MGI ID: |
MGI:3574585 |
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Gene:
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Gnrhr
Location:
Chr5:86180754-86197901 bp, - strand
Genetic Position: Chr5,
43.56 cM
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Mutation
origin |
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Strain of Origin:
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C57BL/6
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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Mutation details: This allele has a T to C transition in exon 1, 350 bp downstream of the start codon, causing a leucine to praline substitution at position 117, at the N-terminal junction of the third transmembrane domain. Real-time RT-PCR indicated that mRNA levels are 8-fold higher in homozygous mutants. (J:96941)
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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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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Gnrhr Mutation:
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3 strains or lines available |
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| References |
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Original: |
J:96941
Pask AJ et al.,
"A novel mouse model of hypogonadotrophic hypogonadism: N-ethyl-N-nitrosourea-induced gonadotropin-releasing hormone receptor gene mutation."
Mol Endocrinol 2005 Apr;19(4):972-81
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All: |
2 reference(s)
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Analysis Tools
