Egln1^tm1.1Fsl
Targeted Allele Detail

Summary

• Symbol: Egln1^tm1.1Fsl
• Name: egl-9 family hypoxia-inducible factor 1; targeted mutation 1.1, Frank Lee
• MGI ID: MGI:5521374
• Synonyms: Phd2^P294R
• Gene: Egln1 Location: Chr8:125635326-125676063 bp, - strand Genetic Position: Chr8, 72.86 cM
• Alliance: Egln1^tm1.1Fsl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:202737
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted
• Mutation: Nucleotide substitutions
• Mutation details: The C57BL/6 bacterial artificial chromosome (BAC) clone RP23-356I16 containing genomic DNA from exons 2-4 of the Egln1 gene was modified to insert a P249R nucleotide substitution in exon 2 using a minitargeting vector. The final targeting vector contained a 6.9 kb 5' arm containing exon 2 with the P249R nucleotide substitution, a loxP-flanked neomycin selection cassette and a 4.1 kb 3' arm. The presence of the P249R mutation was confirmed by sequencing. The neomycin resistance cassette was removed by cre-mediated recombination using mice carrying the Gt(ROSA)26Sor^{tm16(cre)Arte} allele. (J:202737)

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Egln1 Mutation: 22 strains or lines available

References

• Original: J:202737 Arsenault PR, et al., A Knock-in Mouse Model of Human PHD2 Gene-associated Erythrocytosis Establishes a Haploinsufficiency Mechanism. J Biol Chem. 2013 Nov 22;288(47):33571-84
• All: 1 reference(s)