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Ssu2tm1.1Xmx
Targeted Allele Detail
Nomenclature
Symbol: Ssu2tm1.1Xmx
Name: ssu-2 homolog (C. elegans); targeted mutation 1.1, Xiangming Xu
MGI ID: MGI:5908700
Synonyms: Ssuh2 P141Q
Gene: Ssu2  Location: Chr6:112359324-112388023 bp, - strand  Genetic Position: Chr6, 52.2 cM
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 detailsExon 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 24 assay results
In Structures Affected by this Mutation: 4 anatomical structures
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:  13 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)

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
11/10/2020
MGI 6.16
The Jackson Laboratory