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| Nomenclature |
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Symbol:
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Amelxtm1Kul
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Name:
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amelogenin X chromosome;
targeted mutation 1, Ashok B Kulkarni
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MGI ID: |
MGI:2177294 |
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Gene:
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Amelx
Location:
ChrX:169176114-169187200 bp, - strand
Genetic Position: ChrX,
78.95 cM
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Enamel hypoplasia in Amelxtm1Kul/Amelxtm1Kul incisors
Show the 3 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:71126
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: A neomycin selection cassette replaced 300 bp of exon 2/intron 2 including the translation start site. RT-PCR analysis on tooth germ isolated from homozygous mice demonstrated that a aberrant transcript was produced from this allele that spliced exon 1 to exon 3. However, protein analysis and western blot experiments confirmed that no detectable protein was expressed from this allele. (J:71126)
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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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| References |
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Original: |
J:71126
Gibson CW et al.,
"Amelogenin-deficient mice display an amelogenesis imperfecta phenotype."
J Biol Chem 2001 Aug 24;276(34):31871-5
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All: |
8 reference(s)
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Analysis Tools
