About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Tmprss6tm1Otin
targeted mutation 1, Carlos Lopez-Otin
MGI:3809291
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Tmprss6tm1Otin/Tmprss6tm1Otin involves: 129P2/OlaHsd * C57BL/6 MGI:5441343
hm2
 		Tmprss6tm1Otin/Tmprss6tm1Otin involves: 129P2/OlaHsd * C57BL/6J MGI:3809311
cx3
 		Hbb-b1tm1Unc/Hbb-b1+
Hbb-b2tm1Unc/Hbb-b2+
Tmprss6tm1Otin/Tmprss6tm1Otin 		involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N MGI:5441341
cx4
 		Hbb-b1tm1Unc/Hbb-b1+
Hbb-b2tm1Unc/Hbb-b2+
Tmprss6tm1Otin/Tmprss6+ 		involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N MGI:5441342


Genotype
MGI:5441343
hm1
Allelic
Composition		 Tmprss6tm1Otin/Tmprss6tm1Otin
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tmprss6tm1Otin mutation (0 available); any Tmprss6 mutation (46 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hematopoietic system
decreased hemoglobin content ( J:185154 )
• at 6 months of age
microcytosis ( J:185154 )
• severe at 6 months of age




Genotype
MGI:3809311
hm2
Allelic
Composition		 Tmprss6tm1Otin/Tmprss6tm1Otin
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tmprss6tm1Otin mutation (0 available); any Tmprss6 mutation (46 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
growth/size/body
postnatal growth retardation ( J:138734 )
• some growth retardation which is more pronounced in females

reproductive system
abnormal ovary development ( J:138734 )
• marked retardation in ovary maturation

hematopoietic system
abnormal erythrocyte morphology ( J:138734 )
• severe hypochromia on blood smears
• hematopoietic defects reversed by iron-dextran treatment

homeostasis/metabolism
abnormal iron level ( J:138734 )
• severe iron deficiency
decreased circulating iron level ( J:138734 )
• reduced transferrin saturation

endocrine/exocrine glands
abnormal ovary development ( J:138734 )
• marked retardation in ovary maturation

integument
alopecia ( J:138734 )
• hair loss on the back starting at 2 weeks
• hair loss not seen on the head
• completely nude on dorsal and ventral regions of the thorax and abdomen by 4 weeks
• new hair growth starting about 10 days later with further cycles of progressive hair loss
• diffuse alopecia in dorsal regions continues throughout adulthood
• completely reversed by iron-dextran treatment
abnormal hair follicle morphology ( J:138734 )
• disorganized, dystrophic, and hypoplastic at 4 weeks of age
abnormal hair follicle infundibulum morphology ( J:138734 )
• infundibular ectasia and hyperkeratosis at 4 weeks which disappears in adults
thin hair follicle outer root sheath ( J:138734 )
• thinner outer sheath in isthmus and inferior segment levels
pallor ( J:138734 )
• in newborns




Genotype
MGI:5441341
cx3
Allelic
Composition		 Hbb-b1tm1Unc/Hbb-b1+
Hbb-b2tm1Unc/Hbb-b2+
Tmprss6tm1Otin/Tmprss6tm1Otin
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hbb-b1tm1Unc mutation (2 available); any Hbb-b1 mutation (7 available)
Hbb-b2tm1Unc mutation (2 available); any Hbb-b2 mutation (5 available)
Tmprss6tm1Otin mutation (0 available); any Tmprss6 mutation (46 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hematopoietic system
abnormal erythroid progenitor cell morphology ( J:185154 )
• reduced percentage in the spleen compared to mutant mice wild-type for Tmprss6
abnormal erythrocyte morphology ( J:185154 )
• abnormalities are ameliorated compared to mutant mice wild-type for Tmprss6
abnormal erythropoiesis ( J:185154 )
• improved erythropoiesis compared to mutant mice wild-type for Tmprss6
abnormal erythrocyte cell number ( J:185154 )
• increased by about 30% compared to mutant mice wild-type for Tmprss6
abnormal hemoglobin content ( J:185154 )
• increased by about 15% compared to mutant mice wild-type for Tmprss6
reticulocytopenia ( J:185154 )
• reduced percentage compared to mutant mice wild-type for Tmprss6
abnormal spleen size ( J:185154 )
• reduced size compared to mutant mice wild-type for Tmprss6

homeostasis/metabolism
homeostasis/metabolism phenotype ( J:185154 )
N
• iron levels in the spleen and liver are similar to wild-type controls unlike in mutant mice wild-type for Tmprss6
increased circulating erythropoietin level ( J:185154 )
• similar to mutant mice wild-type for Tmprss6
• levels are higher in males than in females

immune system
abnormal spleen size ( J:185154 )
• reduced size compared to mutant mice wild-type for Tmprss6




Genotype
MGI:5441342
cx4
Allelic
Composition		 Hbb-b1tm1Unc/Hbb-b1+
Hbb-b2tm1Unc/Hbb-b2+
Tmprss6tm1Otin/Tmprss6+
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hbb-b1tm1Unc mutation (2 available); any Hbb-b1 mutation (7 available)
Hbb-b2tm1Unc mutation (2 available); any Hbb-b2 mutation (5 available)
Tmprss6tm1Otin mutation (0 available); any Tmprss6 mutation (46 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hematopoietic system
abnormal erythrocyte cell number ( J:185154 )
• increased in males and females compared to mutant male and female mice wild-type for Tmprss6 at 6 months of age
abnormal hemoglobin content ( J:185154 )
• increased in males compared to mutant male mice wild-type for Tmprss6
decreased mean corpuscular volume ( J:185154 )
• decreased in males compared to mutant male mice wild-type for Tmprss6 at 6 months of age
abnormal spleen iron level ( J:185154 )
• total spleen iron, but not iron per gram of tissue, is decreased in males compared to mutant male mice wild-type for Tmprss6
abnormal spleen size ( J:185154 )
• reduced size in males compared to mutant male mice wild-type for Tmprss6

homeostasis/metabolism
abnormal spleen iron level ( J:185154 )
• total spleen iron, but not iron per gram of tissue, is decreased in males compared to mutant male mice wild-type for Tmprss6
abnormal circulating erythropoietin level ( J:185154 )
• decreased in males compared to mutant male mice wild-type for Tmprss6
abnormal liver iron level ( J:185154 )
• decreased in males compared to mutant male mice wild-type for Tmprss6

liver/biliary system
abnormal liver iron level ( J:185154 )
• decreased in males compared to mutant male mice wild-type for Tmprss6

immune system
abnormal spleen iron level ( J:185154 )
• total spleen iron, but not iron per gram of tissue, is decreased in males compared to mutant male mice wild-type for Tmprss6
abnormal spleen size ( J:185154 )
• reduced size in males compared to mutant male mice wild-type for Tmprss6




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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory