Slc48a1^em1Ih
Endonuclease-mediated Allele Detail

Summary

• Symbol: Slc48a1^em1Ih
• Name: solute carrier family 48 (heme transporter), member 1; endonuclease-mediated mutation 1, Iqbal Hamza
• MGI ID: MGI:6711492
• Synonyms: M6
• Gene: Slc48a1 Location: Chr15:97682246-97690573 bp, + strand Genetic Position: Chr15, 53.78 cM, cytoband F2
• Alliance: Slc48a1^em1Ih page

Mutation origin

• Strain of Origin: (C57BL/6J x 129)F1

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/cas9 mediated recombination created a 2 bp deletion in exon 1 resulting in a frameshift mutation in the region after the first transmembrane domain. While mRNA was detected immunoblot and immunohistochemical analysis confirmed the absence of protein in reticuloendothelial tissues from homozygous mice. (J:282829)

Expression

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 Slc48a1 Mutation: 7 strains or lines available

References

• Original: J:282829 Pek RH, et al., Hemozoin produced by mammals confers heme tolerance. Elife. 2019 Oct 1;8:e49503
• All: 1 reference(s)