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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pot1btm1.1Schg
targeted mutation 1.1, Sandy Chang
MGI:3831881
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pot1btm1.1Schg/Pot1btm1.1Schg involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL MGI:3831885
hm2
Pot1btm1.1Schg/Pot1btm1.1Schg involves: 129S6/SvEvTac * C57BL/6 MGI:3831882
cx3
Pot1btm1.1Schg/Pot1btm1.1Schg
Terctm1Rdp/Terctm1Rdp
involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL MGI:3831883
cx4
Pot1btm1.1Schg/Pot1btm1.1Schg
Terctm1Rdp/Terc+
involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL MGI:3831884


Genotype
MGI:3831885
hm1
Allelic
Composition
Pot1btm1.1Schg/Pot1btm1.1Schg
Genetic
Background
involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pot1btm1.1Schg mutation (0 available); any Pot1b mutation (38 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• male germ cell depletion
• testicular atrophy

pigmentation
• with age mice develop hyperpigmentation around their tails, legs, paws, and snout

growth/size/body
• both sexes weigh less than littermate controls

endocrine/exocrine glands
• testicular atrophy

integument
• nail dystrophy

cellular
• male germ cell depletion




Genotype
MGI:3831882
hm2
Allelic
Composition
Pot1btm1.1Schg/Pot1btm1.1Schg
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pot1btm1.1Schg mutation (0 available); any Pot1b mutation (38 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• by 220 days of age about a 20-fold increase in apoptosis is seen in seminiferous tubules
• by 220 days of age, spermatogenesis is absent from about 60% of seminiferous tubules and apoptosis is increased about 20 fold
• however, Sertoli and Leydig cells appear largely unaffected
• by 220 days of age testes size is reduced by about 2-fold compared to age-matched controls
• by 220 days of age, spermatogenesis is absent from about 60% of seminiferous tubules
• males become sterile after producing 3 to 4 litters

growth/size/body
• both sexes are smaller than littermate controls

digestive/alimentary system
• about a 15 fold increase in apoptotic cells concentrated around the intestinal crypt epithelia

endocrine/exocrine glands
• about a 15 fold increase in apoptotic cells concentrated around the intestinal crypt epithelia
• by 220 days of age, spermatogenesis is absent from about 60% of seminiferous tubules and apoptosis is increased about 20 fold
• however, Sertoli and Leydig cells appear largely unaffected
• by 220 days of age testes size is reduced by about 2-fold compared to age-matched controls

cellular
• by 220 days of age about a 20-fold increase in apoptosis is seen in seminiferous tubules




Genotype
MGI:3831883
cx3
Allelic
Composition
Pot1btm1.1Schg/Pot1btm1.1Schg
Terctm1Rdp/Terctm1Rdp
Genetic
Background
involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pot1btm1.1Schg mutation (0 available); any Pot1b mutation (38 available)
Terctm1Rdp mutation (4 available); any Terc mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• all mice but one mouse born alive died within days of birth
• the single exception died by P13, all additional phenotype data is for this single mouse

reproductive system
• near complete absence of germ cells representing all stages of spermatogenesis
• near complete absence of all stages of spermatogenesis

hematopoietic system
• striking absence of bone marrow cells
• acute bone marrow failure
• severe

digestive/alimentary system
• increased intestinal apoptosis

immune system

cellular
• near complete absence of germ cells representing all stages of spermatogenesis




Genotype
MGI:3831884
cx4
Allelic
Composition
Pot1btm1.1Schg/Pot1btm1.1Schg
Terctm1Rdp/Terc+
Genetic
Background
involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pot1btm1.1Schg mutation (0 available); any Pot1b mutation (38 available)
Terctm1Rdp mutation (4 available); any Terc mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• overall median life span is 180 days
• median life span in males is 196 days while median life span for females is 84 days

cellular
• male germ cell depletion
• 3 fold decrease in testicular volume by 170 days of age
• phenotype is more severe than in mice homozygous for the Pot1b mutation alone
• increased apoptosis in proliferative tissues and cells (male germ cells, hematopoietic cells, intestinal cells)

reproductive system
• male germ cell depletion
• 3 fold decrease in testicular volume by 170 days of age
• phenotype is more severe than in mice homozygous for the Pot1b mutation alone
• testicular atrophy
• phenotype is more severe than in mice homozygous for the Pot1b mutation alone
• near complete absence of all stages of spermatogenesis by 170 days of age

hematopoietic system
• primary bone marrow cells and splenocytes show increased numbers of fused chromosomes, significantly shorter telomeres, and increased numbers of signal free ends
• 8 fold increase in apoptotic cells
• seen in females by 79 days of age
• bone marrow shows a striking absence of trilineage hematopoiesis
• striking decrease in the size and number of colonies of myeloid cells formed by bone marrow cells
• bone marrow shows a striking absence of trilineage hematopoiesis which is almost completely replaced by stromal adipose tissue
• acute bone marrow failure
• erythroid cells are reduced about 2 fold
• granulocytes present are left-shifted with dysplatic features and immature blasts are present
• mature granulocytes are reduced about 4 fold
• seen in females by 79 days of age
• by 79 days of age females develop severe leukopenia
• 60% of mice present with peripheral blood smears essentially devoid of leukocytes
• results suggest renewal of hematopoietic stem cells is severely impaired

pigmentation
• with age mice develop hyperpigmentation around their tails, legs, paws, and snout
• phenotype is more severe than in mice homozygous for the Pot1b mutation alone

growth/size/body
• both sexes weigh less than littermate controls
• phenotype is more severe than in mice homozygous for the Pot1b mutation alone

digestive/alimentary system
• about a 25 fold increase in apoptotic cells in the intestinal crypt
• increase in apoptosis is accompanied by an increase in the anaphase bridge index

endocrine/exocrine glands
• about a 25 fold increase in apoptotic cells in the intestinal crypt
• increase in apoptosis is accompanied by an increase in the anaphase bridge index
• testicular atrophy
• phenotype is more severe than in mice homozygous for the Pot1b mutation alone

immune system
• granulocytes present are left-shifted with dysplatic features and immature blasts are present
• mature granulocytes are reduced about 4 fold
• 60% of mice present with peripheral blood smears essentially devoid of leukocytes
• by 79 days of age females develop severe leukopenia

integument
• nail dystrophy
• phenotype is more severe than in mice homozygous for the Pot1b mutation alone

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
dyskeratosis congenita DOID:2729 OMIM:PS127550
J:144553





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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory