Amelx^tm1Kul
Targeted Allele Detail

Summary

• Symbol: Amelx^tm1Kul
• Name: amelogenin, X-linked; targeted mutation 1, Ashok B Kulkarni
• MGI ID: MGI:2177294
• Gene: Amelx Location: ChrX:167959110-167970196 bp, - strand Genetic Position: ChrX, 78.95 cM
• Alliance: Amelx^tm1Kul page

Enamel hypoplasia in Amelx^tm1Kul/Amelx^tm1Kul incisors

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

Mutation origin

• 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⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• 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)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Amelx Mutation: 26 strains or lines available

References

• 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: 19 reference(s)