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Phenotypes Associated with This Genotype
Genotype
MGI:3796136
Allelic
Composition
Tmprss6msk/Tmprss6msk
Genetic
Background
C57BL/6J-Tmprss6msk
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tmprss6msk mutation (1 available); any Tmprss6 mutation (46 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body

reproductive system
• homozygous mutant females are infertile unless supplemental iron is administered intraperitoneally or in their diet (2% carbonyl iron)

hematopoietic system
• hematologic analysis of homozygous mutant mice reveals decreased mean red blood cell volume and decreased hemoglobin, diagnostic of microcytic anemia
• mask mutants consuming a standard laboratory diet have low tissue iron stores; far fewer spleen cells of mutant than of wild-type mice stain with Prussion blue

homeostasis/metabolism
• despite the anemia of iron-deprived homozygous mutants, their liver levels of mRNA encoding hepcidin, a suppressor of intestinal iron absorption, increase to approximately 8-fold the levels in iron-deprived but non-anemic controls, in whom hepcidin transcription is repressed
• mask mutants consuming a standard laboratory diet have low tissue iron stores; far fewer spleen cells of mutant than of wild-type mice stain with Prussion blue
• plasma iron levels of homozygous mutant mice are approximately 3-fold lower thant those of control mice

immune system
• mask mutants consuming a standard laboratory diet have low tissue iron stores; far fewer spleen cells of mutant than of wild-type mice stain with Prussion blue

digestive/alimentary system
• on a standard diet, intestinal iron absorption by mask mutants is slightly greater than that of non-anemic controls, as measured by 59Fe retention after intragastric administration
• after 4 weeks on an iron-deficient diet, homozygous mutants exhibit only 3.5-fold greater 59Fe absorption efficiency than on a standard diet, compared to a 6-fold increase in absorption efficiency in iron-deprived but non-anemic controls
• despite the anemia of iron-deprived homozygous mutants, their liver levels of mRNA encoding hepcidin, a suppressor of intestinal iron absorption, increase to approximately 8-fold the levels in iron-deprived but non-anemic controls, in whom hepcidin transcription is repressed

integument
• mice homozygous for this mutation develop a normal hair coat by postnatal day 10 (P10), but from P13 they gradually lose hair from the trunk, and most are nude or have very sparse body hair by P28; facial hair is unaffected
• feeding or intraperitoneal administration of supplemental iron reverses the hair loss phenotype
• mice homozygous for this mutation develop a normal hair coat by postnatal day 10 (P10), but from P13 they gradually lose hair from the trunk, and most are nude or have very sparse body hair by P28; facial hair is unaffected
• feeding or intraperitoneal administration of supplemental iron reverses the hair loss phenotype


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
05/07/2024
MGI 6.23
The Jackson Laboratory