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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




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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory