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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Hcsttm1.1Cln
targeted mutation 1.1, Marco Colonna
MGI:2446491
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Hcsttm1.1Cln/Hcsttm1.1Cln B6.129P2-Hcsttm1.1Cln MGI:3840592
hm2
 		Hcsttm1.1Cln/Hcsttm1.1Cln involves: 129P2/OlaHsd * BALB/cJ * C57BL/6 MGI:3818337
hm3
 		Hcsttm1.1Cln/Hcsttm1.1Cln involves: 129P2/OlaHsd * C57BL/6 MGI:3818417
cx4
 		Hcsttm1.1Cln/Hcsttm1.1Cln
Tyrobptm1Lll/Tyrobptm1Lll 		B6.Cg-Hcsttm1.1Cln Tyrobptm1Lll MGI:3843528


Genotype
MGI:3840592
hm1
Allelic
Composition		 Hcsttm1.1Cln/Hcsttm1.1Cln
Genetic
Background		 B6.129P2-Hcsttm1.1Cln
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hcsttm1.1Cln mutation (0 available); any Hcst mutation (9 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
skeleton
abnormal osteoclast differentiation ( J:147155 )
• in vitro osteoclastogenesis from bone marrow-derived monocyte/macrophage lineage cells is impaired, especially at suboptimal concentrations of RANKL and M-CSF, compared to similarly treated wild-type cells
• however, osteoblast growth and differentiation are normal
abnormal osteoclast physiology ( J:147155 )
• at 6 months, osteoclast function is decreased compared to in wild-type mice
abnormal long bone metaphysis morphology ( J:147155 )
• at 6 months, mice exhibit a slight increase in metaphyses compared to wild-type mice
increased bone volume ( J:147155 )
• at 6 months, bone volume to tissue volume is increased compared to in wild-type mice
• however, bone volume to tissue volume is normal at 1.5 and 3 months of age
abnormal trabecular bone morphology ( J:147155 )
• at 6 months, mice exhibit a slight increase in trabecular bones compared to wild-type mice
osteopetrosis ( J:147155 )
• at 6 months, mice exhibit slight increases in metaphyses and trabecular bones compared to wild-type mice

immune system
abnormal osteoclast differentiation ( J:147155 )
• in vitro osteoclastogenesis from bone marrow-derived monocyte/macrophage lineage cells is impaired, especially at suboptimal concentrations of RANKL and M-CSF, compared to similarly treated wild-type cells
• however, osteoblast growth and differentiation are normal
abnormal osteoclast physiology ( J:147155 )
• at 6 months, osteoclast function is decreased compared to in wild-type mice

hematopoietic system
abnormal osteoclast differentiation ( J:147155 )
• in vitro osteoclastogenesis from bone marrow-derived monocyte/macrophage lineage cells is impaired, especially at suboptimal concentrations of RANKL and M-CSF, compared to similarly treated wild-type cells
• however, osteoblast growth and differentiation are normal
abnormal osteoclast physiology ( J:147155 )
• at 6 months, osteoclast function is decreased compared to in wild-type mice

cellular
abnormal osteoclast differentiation ( J:147155 )
• in vitro osteoclastogenesis from bone marrow-derived monocyte/macrophage lineage cells is impaired, especially at suboptimal concentrations of RANKL and M-CSF, compared to similarly treated wild-type cells
• however, osteoblast growth and differentiation are normal




Genotype
MGI:3818337
hm2
Allelic
Composition		 Hcsttm1.1Cln/Hcsttm1.1Cln
Genetic
Background		 involves: 129P2/OlaHsd * BALB/cJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hcsttm1.1Cln mutation (0 available); any Hcst mutation (9 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
immune system phenotype ( J:80426 )
N
• mice exhibit normal immune system development
decreased CD8-positive, alpha-beta T cell number ( J:80426 )
• following vaccination and re-challenge with RMAS.Raet1c cells, mice lack an IFN-gamma-secreting CD8+ T cell population that accumulates within tumors in similarly treated wild-type mice
impaired natural killer cell mediated cytotoxicity ( J:80426 )
• NK cell killing of RMAS.Raet1c or YAC cells is less efficient than that of wild-type mice
• NK cell surveillance exhibits reduced tumor rejection response following inoculation with RMAS tumor cells expressing Raet1c

hematopoietic system
decreased CD8-positive, alpha-beta T cell number ( J:80426 )
• following vaccination and re-challenge with RMAS.Raet1c cells, mice lack an IFN-gamma-secreting CD8+ T cell population that accumulates within tumors in similarly treated wild-type mice
impaired natural killer cell mediated cytotoxicity ( J:80426 )
• NK cell killing of RMAS.Raet1c or YAC cells is less efficient than that of wild-type mice
• NK cell surveillance exhibits reduced tumor rejection response following inoculation with RMAS tumor cells expressing Raet1c




Genotype
MGI:3818417
hm3
Allelic
Composition		 Hcsttm1.1Cln/Hcsttm1.1Cln
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hcsttm1.1Cln mutation (0 available); any Hcst mutation (9 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
abnormal maternal decidual layer morphology ( J:100668 )
• embryo implantation sites are hypocellular compared to in wild-type mice
• at E10, the mesometrial lymphoid aggregate of pregnancy is enlarged compared to in wild-type mice
• however, decidual spiral artery develops normally
abnormal decidua basalis morphology ( J:100668 )
• at E10 and E12, the deciduas basalis is larger compared to in wild-type mice
decreased uterine NK cell number ( J:100668 )
• at E10 and E12 in the mesometrial lymphoid aggregate of pregnancy but not the deciduas basalis
reduced fertility ( J:100668 )
• fewer mice become pregnant following mating compared to wild-type mice
• early post-implantation (E6 and E8) and midgestational (E10) fetal losses are greater than in wild-type mice

embryo
abnormal maternal decidual layer morphology ( J:100668 )
• embryo implantation sites are hypocellular compared to in wild-type mice
• at E10, the mesometrial lymphoid aggregate of pregnancy is enlarged compared to in wild-type mice
• however, decidual spiral artery develops normally
abnormal decidua basalis morphology ( J:100668 )
• at E10 and E12, the deciduas basalis is larger compared to in wild-type mice
decreased uterine NK cell number ( J:100668 )
• at E10 and E12 in the mesometrial lymphoid aggregate of pregnancy but not the deciduas basalis

immune system
decreased uterine NK cell number ( J:100668 )
• at E10 and E12 in the mesometrial lymphoid aggregate of pregnancy but not the deciduas basalis
decreased interferon-gamma secretion ( J:100668 )
• at E10 in the mesometrial lymphoid aggregate of pregnancy

hematopoietic system
decreased uterine NK cell number ( J:100668 )
• at E10 and E12 in the mesometrial lymphoid aggregate of pregnancy but not the deciduas basalis

endocrine/exocrine glands
decreased uterine NK cell number ( J:100668 )
• at E10 and E12 in the mesometrial lymphoid aggregate of pregnancy but not the deciduas basalis




Genotype
MGI:3843528
cx4
Allelic
Composition		 Hcsttm1.1Cln/Hcsttm1.1Cln
Tyrobptm1Lll/Tyrobptm1Lll
Genetic
Background		 B6.Cg-Hcsttm1.1Cln Tyrobptm1Lll
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hcsttm1.1Cln mutation (0 available); any Hcst mutation (9 available)
Tyrobptm1Lll mutation (1 available); any Tyrobp mutation (12 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
abnormal NK T cell physiology ( J:147867 )
• NK cells fail to kill m157-expressing target cells unlike wild-type cells
abnormal response to infection ( J:147867 )
• 4 days after infection with mouse cytomegalovirus, mice exhibit higher titers than in similarly treated Tyrobptm1Lll homozygotes

hematopoietic system
abnormal NK T cell physiology ( J:147867 )
• NK cells fail to kill m157-expressing target cells unlike wild-type cells




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