Alox12b^mmy
Chemically induced Allele Detail

Summary

• Symbol: Alox12b^mmy
• Name: arachidonate 12-lipoxygenase, 12R type; mummy
• MGI ID: MGI:3655496
• Synonyms: 12R-LOX^-, Alox12b^mmy-Bei
• Gene: Alox12b Location: Chr11:69047898-69060617 bp, + strand Genetic Position: Chr11, 42.38 cM
• Alliance: Alox12b^mmy page

Mutation origin

• Strain of Origin: A/J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: A G-to-A transition in exon 14 produces a premature stop codon at amino acid position 633 resulting in a protein product truncated by 68 amino acids. The mutated transcript can be found in the skin of homozygotes. (J:119554)
• Inheritance: Recessive

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1	Alox12b^mmy/Alox12b^mmy	involves: A/J * C57BL/6 * FVB/N

Phenotypes:

Affected Systems	hm1
show or hide all annotated terms
homeostasis/metabolism	√
dehydration	√
impaired skin barrier function	√
integument	√
impaired skin barrier function	√
abnormal epidermis stratum corneum morphology	√
dry skin	√
reddish skin	√
scaly skin	√
shiny skin	√
mortality/aging	√
neonatal lethality, complete penetrance	√

View phenotypes and curated references for all genotypes (concatenated display).

Expression

In Structures Affected by this Mutation:

1 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 Alox12b Mutation: 36 strains or lines available

References

• Original: J:119554 Moran JL, et al., A mouse mutation in the 12R-Lipoxygenase, Alox12b, disrupts formation of the epidermal permeability barrier. J Invest Dermatol. 2007 Aug;127(8):1893-7
• All: 3 reference(s)