Greb1l^em1Cjea
Endonuclease-mediated Allele Detail

Summary

• Symbol: Greb1l^em1Cjea
• Name: growth regulation by estrogen in breast cancer-like; endonuclease-mediated mutation 1, Cecile Jeanpierre
• MGI ID: MGI:6117871
• Synonyms: Greb1l^-
• Gene: Greb1l Location: Chr18:10325177-10562940 bp, + strand Genetic Position: Chr18, 5.0 cM
• Alliance: Greb1l^em1Cjea page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR-Cas9 mediated mutagenesis created a 4 base pair deletion in exon 3 (c64_68delATAG) predicted to lead to a frameshift and the creation of a premature stop codon (p.Iso22Lysfs*39) and to result in loss of function. (J:248902)

Expression

In Mice Carrying this Mutation:	33 assay results 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	13 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 Greb1l Mutation: 153 strains or lines available

References

• Original: J:248902 De Tomasi L, et al., Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice. Am J Hum Genet. 2017 Nov 2;101(5):803-814
• All: 2 reference(s)