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Targeted Allele Detail
Symbol: Amelxtm1Kul
Name: amelogenin, X-linked; targeted mutation 1, Ashok B Kulkarni
MGI ID: MGI:2177294
Gene: Amelx  Location: ChrX:169176114-169187200 bp, - strand  Genetic Position: ChrX, 78.95 cM
Enamel hypoplasia in Amelxtm1Kul/Amelxtm1Kul incisors

Show the 3 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:71126
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA 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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 3 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Amelx Mutation:  2 strains or lines available
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
All:  14 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.13
The Jackson Laboratory