Ambn^tm1Nid
Targeted Allele Detail

Summary

• Symbol: Ambn^tm1Nid
• Name: ameloblastin; targeted mutation 1, Yoshihiko Yamada
• MGI ID: MGI:3525231
• Synonyms: Ambn^-, AMBN^delta5-6
• Gene: Ambn Location: Chr5:88603850-88616390 bp, + strand Genetic Position: Chr5, 43.63 cM
• Alliance: Ambn^tm1Nid page

Defects in enamel formation of Ambn^tm1Nid/Ambn^tm1Nid 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 details: A 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)

Expression

In Structures Affected by this Mutation:

6 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Ambn^tm1Nid

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)