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Ambntm1Nid
Targeted Allele Detail
Summary
Symbol: Ambntm1Nid
Name: ameloblastin; targeted mutation 1, Yoshihiko Yamada
MGI ID: MGI:3525231
Synonyms: Ambn-, AMBNdelta5-6
Gene: Ambn  Location: Chr5:88603850-88616390 bp, + strand  Genetic Position: Chr5, 43.63 cM
Alliance: Ambntm1Nid page
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 and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 6 anatomical structure(s)
Tumor Data
List all tumor models in MMHCdb carrying Ambntm1Nid
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:  32 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:  7 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory