Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol: Amelxtm1Kul 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: Amelxtm1Kul page

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 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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

2 anatomical structure(s)

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:	25 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:	19 reference(s)