Point mutations were introduced into exon 8 that altered codon 250 from one encoding leucine to one encoding threonine. Additional mutations in intron 7 created a new restriction site. A loxP-flanked neomycin and thymidine kinase selection cassette was also inserted in intron 9, but was subsequently removed by Cre mediated recombination in ES cells prior to the production of chimeric mice. (J:61536)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S7/SvEvBrd-Hprt1b-m2
Targeted
Nucleotide substitutions
--
1
2
6

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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