Itpa^em#Drf
Endonuclease-mediated Allele Detail

Summary

• Symbol: Itpa^em#Drf
• Name: inosine triphosphatase (nucleoside triphosphate pyrophosphatase); endonuclease-mediated mutation, David R FitzPatrick
• MGI ID: MGI:6287401
• Gene: Itpa Location: Chr2:130509530-130523534 bp, + strand Genetic Position: Chr2, 63.24 cM, cytoband F3
• Alliance: Itpa^em#Drf page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: CRISPR/Cas9 technology was used to generate a null allele. Sequencing revealed several null alleles including c.-33_125_129delinsCTGTCTGTTT, c.-33_125_147del, c.258dupC, and c.234_257del, however the # is used as no line is specified and/or lines are pooled. Western blot analysis confirmed absence of protein in homozygotes. (J:273099)

Expression

In Mice Carrying this Mutation:	2 assay results
In Structures Affected by this Mutation:	1 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 Itpa Mutation: 23 strains or lines available

References

• Original: J:273099 Handley MT, et al., ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy. PLoS Genet. 2019 Mar;15(3):e1007605
• All: 1 reference(s)