Ssu2^tm1.1Xmx
Targeted Allele Detail

Summary

• Symbol: Ssu2^tm1.1Xmx
• Name: ssu-2 homolog; targeted mutation 1.1, Xiangming Xu
• MGI ID: MGI:5908700
• Synonyms: Ssuh2 P141Q
• Gene: Ssu2 Location: Chr6:112336285-112364984 bp, - strand Genetic Position: Chr6, 52.2 cM
• Alliance: Ssu2^tm1.1Xmx page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:240559
• Parent Cell Line: PTL1 (ES Cell)
• Strain of Origin: (129S6/SvEvTac x C57BL/6J)F1

Mutation description

• Allele Type: Targeted (Humanized sequence, Hypomorph)
• Mutations: Insertion, Single point mutation
• Mutation details: Exon 6 was replaced wiht on in which a point mutation (C to A) results in the amino acid substitution of glutamine for proline at position 141 (P141Q). Cre-mediate recombination removed the floxed neomycin resistance cassette inserted downstream of the modified exon. The modification mimics one identified in human patients with Autosomal-Dominant Dentin Dysplasia Type I. Real-time PCR confirmed reduced transcript expression in the underjaw tissue in homozygotes. (J:240559)

Disease models

Expression

In Mice Carrying this Mutation:	24 assay results
In Structures Affected by this Mutation:	4 anatomical structure(s)

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 Ssu2 Mutation: 22 strains or lines available

References

• Original: J:240559 Xiong F, et al., Mutation in SSUH2 Causes Autosomal-Dominant Dentin Dysplasia Type I. Hum Mutat. 2017 Jan;38(1):95-104
• All: 1 reference(s)