Pou1f1^em1Snar
Endonuclease-mediated Allele Detail

Summary

• Symbol: Pou1f1^em1Snar
• Name: POU domain, class 1, transcription factor 1; endonuclease-mediated mutation 1, Satoshi Narumi
• MGI ID: MGI:8240788
• Synonyms: Pou1f1^GE
• Gene: Pou1f1 Location: Chr16:65317397-65331183 bp, + strand Genetic Position: Chr16, 37.25 cM
• Alliance: Pou1f1^em1Snar page

Mutation origin

• Strain of Origin: (C57BL/6NCrSlc x DBA/2CrSlc)F1

Mutation description

• Allele Type: Endonuclease-mediated (Modified isoform(s))
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated an A to G substitution (c.143-83A>G) that corresponds to human c.183-83A>G intronic variant adjacent to the beta domain that has been identified in patients with combined pituitary hormone deficiency. This variant is located in the deep intronic region (upstream of the acceptor splice site) for the alpha isoform and is located near the exon-intron boundary for beta isoform. Reverse transcription PCR of pituitary mRNA shows abnormal splicing in homozygotes, with a decrease in the alpha isoform, an increase in the beta isoform, and the emergence of the exon-skipped transcript. (J:369969)

Expression

In Structures Affected by this Mutation:

3 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 Pou1f1 Mutation: 19 strains or lines available

References

• Original: J:369969 Akiba K, et al., POU1F1/Pou1f1 c.143-83A > G Variant Disrupts the Branch Site in Pre-mRNA and Leads to Dwarfism. Endocrinology. 2022 Dec 19;164(2)
• All: 1 reference(s)