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Ambntm1Nid
Targeted Allele Detail
Nomenclature
Symbol: Ambntm1Nid
Name: ameloblastin; targeted mutation 1, Yoshihiko Yamada
MGI ID: MGI:3525231
Synonyms: Ambn-
Gene: Ambn  Location: Chr5:88456011-88468527 bp, + strand  Genetic Position: Chr5, 43.63 cM
Defects in enamel formation of Ambntm1Nid/Ambntm1Nid mice

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

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:94844
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 detailsA PGK-neo replaced a genomic fragment extending from the XbaI site at Chr5:88889874 (Build 37) in intron 4 to the EcoRI site at Chr5:88893057 in intron 6. Both exons 5 and 6 are thus deleted. Neither transcript nor protein was detected in mutant mice. (Additional information provided by authors.) (J:94844)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Ambn Mutation:  2 strains or lines available
Notes
Phenotypic Similarity to Human Syndrome: Amelogenesis Imperfecta (direct communication Y. Yamada)

References
Original:  J:94844 Fukumoto S, et al., Ameloblastin is a cell adhesion molecule required for maintaining the differentiation state of ameloblasts. J Cell Biol. 2004 Dec 6;167(5):973-83
All:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/24/2015
MGI 5.21
The Jackson Laboratory