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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ctsbtm1Jde
targeted mutation 1, Jan Deussing
MGI:2182129
Summary 14 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ctsbtm1Jde/Ctsbtm1Jde either: (involves: 129P2/OlaHsd * 129/Sv) or (involves: 129P2/OlaHsd * C57BL/6) MGI:3626076
hm2
Ctsbtm1Jde/Ctsbtm1Jde involves: 129P2/OlaHsd MGI:3628540
hm3
Ctsbtm1Jde/Ctsbtm1Jde involves: 129P2/OlaHsd * C57BL/6J MGI:3628479
hm4
Ctsbtm1Jde/Ctsbtm1Jde NOD.129P2-Ctsbtm1Jde MGI:4421158
ht5
Ctsbtm1Jde/Ctsb+ NOD.129P2-Ctsbtm1Jde MGI:4421159
cx6
Ctsbtm1Jde/Ctsbtm1Jde
Tg(MMTV-PyVT)634Mul/0
FVB.129P2-Ctsbtm1Jde Tg(MMTV-PyVT)634Mul MGI:4436881
cx7
Ctsbtm1Jde/Ctsbtm1Jde
Ctsztm1Thre/Ctsztm1Thre
FVB.129P2-Ctsztm1Thre Ctsbtm1Jde MGI:4436880
cx8
Ctsbtm1Jde/Ctsbtm1Jde
Ctsztm1Thre/Ctsztm1Thre
Tg(MMTV-PyVT)634Mul/0
FVB.129P2-Ctsztm1Thre Ctsbtm1Jde Tg(MMTV-PyVT)634Mul MGI:4436884
cx9
Cacna1atm3Hzo/Cacna1atm3Hzo
Ctsbtm1Jde/Ctsbtm1Jde
involves: 129P2/OlaHsd * 129S/SvEv MGI:5467738
cx10
Ctsbtm1Jde/Ctsbtm1Jde
Ctsktm1Psa/Ctsktm1Psa
involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6J MGI:3695742
cx11
Cacna1atm2.1Kewa/Cacna1atm2.1Kewa
Ctsbtm1Jde/Ctsbtm1Jde
involves: 129P2/OlaHsd * C57BL/6 MGI:5467736
cx12
Cacna1atm2.1Kewa/Cacna1atm2.1Kewa
Ctsbtm1Jde/Ctsb+
involves: 129P2/OlaHsd * C57BL/6 MGI:5467737
cx13
Ctsbtm1Jde/Ctsbtm1Jde
Serpina3gtm1.1Arp/Serpina3gtm1.1Arp
involves: 129P2/OlaHsd * C57BL/6 MGI:5450842
cx14
Ctsbtm1Jde/Ctsbtm1Jde
Ctsltm1Cptr/Ctsltm1Cptr
involves: 129P2/OlaHsd * C57BL/6J MGI:3628482


Genotype
MGI:3626076
hm1
Allelic
Composition
Ctsbtm1Jde/Ctsbtm1Jde
Genetic
Background
either: (involves: 129P2/OlaHsd * 129/Sv) or (involves: 129P2/OlaHsd * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctsbtm1Jde mutation (3 available); any Ctsb mutation (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
N
• phenotype of mutant mice appears normal
• overall capacity of mutant antigen-presenting cells is unaffected
• MHC class II-mediated antigen presentation is normal

renal/urinary system
N
• normal kidney morphology is obseved
• no cellular disorganization or enlargement of nuclei is seen in kidney proximal tubular cells




Genotype
MGI:3628540
hm2
Allelic
Composition
Ctsbtm1Jde/Ctsbtm1Jde
Genetic
Background
involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctsbtm1Jde mutation (3 available); any Ctsb mutation (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• hepatocyte apoptosis and liver damage in steatotic livers after cold inschemia-worm reperfusion were reduced




Genotype
MGI:3628479
hm3
Allelic
Composition
Ctsbtm1Jde/Ctsbtm1Jde
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctsbtm1Jde mutation (3 available); any Ctsb mutation (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
• cells with enlarged lysosomes
• during the course of experimental pancreatitis induced by intraperitoneal injection of caerulein, the pancreatic trypsin activity was significantly lower at only 18-24% of the control
• the TAP-immunoreactivity levels of mutant mice reached only 38-50% of those found in the pancreas of control animals during the course of experimental pancreatitis
• at the peak of hyperamylasemia and lipasemia, respectively, the serum amylase and lipase activities were 46% lower in mutant mice
• significantly less pancreatic edema after induced acute-pancreatitis
• 48% lower percentage of necrotic acinar cells after induced acute-pancreatitis

homeostasis/metabolism
• amyloid deposits of smaller sized protein
• 5-6 fold increases in thyroglobulin levels




Genotype
MGI:4421158
hm4
Allelic
Composition
Ctsbtm1Jde/Ctsbtm1Jde
Genetic
Background
NOD.129P2-Ctsbtm1Jde
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctsbtm1Jde mutation (3 available); any Ctsb mutation (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• sialadenitis is observed in both diabetic and non-diabetic mice at 6 months of age; average number of lesions observed is similar to number found in NOD mice
• diabetic animals develop insulitis, however, lymphocytic infiltration is less than diabetic NOD controls
• hyperglycemia in females occurs at a lower percentage and later incidence than NOD controls

homeostasis/metabolism

endocrine/exocrine glands
• sialadenitis is observed in both diabetic and non-diabetic mice at 6 months of age; average number of lesions observed is similar to number found in NOD mice
• diabetic animals develop insulitis, however, lymphocytic infiltration is less than diabetic NOD controls

digestive/alimentary system
• sialadenitis is observed in both diabetic and non-diabetic mice at 6 months of age; average number of lesions observed is similar to number found in NOD mice




Genotype
MGI:4421159
ht5
Allelic
Composition
Ctsbtm1Jde/Ctsb+
Genetic
Background
NOD.129P2-Ctsbtm1Jde
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctsbtm1Jde mutation (3 available); any Ctsb mutation (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• insulitis scores for diabetic animals are similar to diabetic NOD controls
• 50% of female mice exhibit blood glucose levels of greater than 250 mg/dl between 4-6 months of age as compared to 69% of NOD controls

homeostasis/metabolism

endocrine/exocrine glands
• insulitis scores for diabetic animals are similar to diabetic NOD controls




Genotype
MGI:4436881
cx6
Allelic
Composition
Ctsbtm1Jde/Ctsbtm1Jde
Tg(MMTV-PyVT)634Mul/0
Genetic
Background
FVB.129P2-Ctsbtm1Jde Tg(MMTV-PyVT)634Mul
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctsbtm1Jde mutation (3 available); any Ctsb mutation (42 available)
Tg(MMTV-PyVT)634Mul mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
neoplasm
• form significantly less and shorter invasive strands in vitro compared with Tg(MMTV-PyVT)634Mul/0 controls
• 56% of the tumors are poorly differentiated, compared with 75% of both Tg(MMTV-PyVT)634Mul/0 and Tg(MMTV-PyVT)634Mul/0; Ctsztm1Thre/Ctsztm1Thre tumors
• more of the tumors are well differentiated or moderately differentiated
• tumor weight was reduced to 65%
• develop an average of five palpable tumors 4.5 days later than the Tg(MMTV-PyVT)634Mul/0 mice

endocrine/exocrine glands

integument




Genotype
MGI:4436880
cx7
Allelic
Composition
Ctsbtm1Jde/Ctsbtm1Jde
Ctsztm1Thre/Ctsztm1Thre
Genetic
Background
FVB.129P2-Ctsztm1Thre Ctsbtm1Jde
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctsbtm1Jde mutation (3 available); any Ctsb mutation (42 available)
Ctsztm1Thre mutation (0 available); any Ctsz mutation (11 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• no evidence of impaired quality of maternal care or overall health
• normal body weight
• no differences in circulating levels of estrogen and progesterone at day 42 after birth by ELISA




Genotype
MGI:4436884
cx8
Allelic
Composition
Ctsbtm1Jde/Ctsbtm1Jde
Ctsztm1Thre/Ctsztm1Thre
Tg(MMTV-PyVT)634Mul/0
Genetic
Background
FVB.129P2-Ctsztm1Thre Ctsbtm1Jde Tg(MMTV-PyVT)634Mul
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctsbtm1Jde mutation (3 available); any Ctsb mutation (42 available)
Ctsztm1Thre mutation (0 available); any Ctsz mutation (11 available)
Tg(MMTV-PyVT)634Mul mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
neoplasm
• 70% fewer lung metastases compared with Tg(MMTV-PyVT)634Mul/0 mice
• 80% smaller average metastasis size
• form significantly less and shorter invasive strands in vitro
• 28% of the tumors are poorly differentiated, compared with 75% of both Tg(MMTV-PyVT)634Mul/0 and Tg(MMTV-PyVT)634Mul/0; Ctsztm1Thre/Ctsztm1Thre tumors
• more of the tumors are well differentiated or moderately differentiated
• with nonpalpable and small tumors even at 14 weeks of age
• tumor weight is reduced to 45% compared with Tg(MMTV-PyVT)634Mul/0 mice
• develop an average of five palpable tumors 7.5 days later than the Tg(MMTV-PyVT)634Mul/0 mice

cellular
• decreased TUNEL-positive cells compared with Ctsbtm1Jde/Ctsbtm1Jde;Tg(MMTV-PyVT)634Mul/0 mice

integument

endocrine/exocrine glands




Genotype
MGI:5467738
cx9
Allelic
Composition
Cacna1atm3Hzo/Cacna1atm3Hzo
Ctsbtm1Jde/Ctsbtm1Jde
Genetic
Background
involves: 129P2/OlaHsd * 129S/SvEv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cacna1atm3Hzo mutation (1 available); any Cacna1a mutation (118 available)
Ctsbtm1Jde mutation (3 available); any Ctsb mutation (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• marked loss of cells at 30 weeks of age in the cerebellum that is not seen in mice homozygous for Cacna1atm3Hzo alone




Genotype
MGI:3695742
cx10
Allelic
Composition
Ctsbtm1Jde/Ctsbtm1Jde
Ctsktm1Psa/Ctsktm1Psa
Genetic
Background
involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctsbtm1Jde mutation (3 available); any Ctsb mutation (42 available)
Ctsktm1Psa mutation (1 available); any Ctsk mutation (31 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands

homeostasis/metabolism
• extremely high levels of thyroglobulin




Genotype
MGI:5467736
cx11
Allelic
Composition
Cacna1atm2.1Kewa/Cacna1atm2.1Kewa
Ctsbtm1Jde/Ctsbtm1Jde
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cacna1atm2.1Kewa mutation (0 available); any Cacna1a mutation (118 available)
Ctsbtm1Jde mutation (3 available); any Ctsb mutation (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• impaired performance on the rotarod at 9 weeks of age
• performance is worse than in mice homozygous for Cacna1atm2.1Kewa alone

nervous system
• significant increase in the percentage of cells harboring cytoplasmic inclusions at 5 weeks of age compared to mice homozygous for Cacna1atm2.1Kewa alone
• marked loss of cells at 9 weeks of age most prominently in the anterior lobe
• loss is more severe than in mice homozygous for Cacna1atm2.1Kewa alone




Genotype
MGI:5467737
cx12
Allelic
Composition
Cacna1atm2.1Kewa/Cacna1atm2.1Kewa
Ctsbtm1Jde/Ctsb+
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cacna1atm2.1Kewa mutation (0 available); any Cacna1a mutation (118 available)
Ctsbtm1Jde mutation (3 available); any Ctsb mutation (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• impaired performance on the rotarod at 9 weeks of age
• performance is worse than in mice homozygous for Cacna1atm2.1Kewa alone




Genotype
MGI:5450842
cx13
Allelic
Composition
Ctsbtm1Jde/Ctsbtm1Jde
Serpina3gtm1.1Arp/Serpina3gtm1.1Arp
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctsbtm1Jde mutation (3 available); any Ctsb mutation (42 available)
Serpina3gtm1.1Arp mutation (1 available); any Serpina3g mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
N
• unlike Serpina3gtm1Dowo homozygotes, memory T cells exhibit normal numbers of lysosomes, restored endogenous memory phenotype CD44hiCD8+ T cell populations and rescued LCMV-specific central CD8+ T cell population




Genotype
MGI:3628482
cx14
Allelic
Composition
Ctsbtm1Jde/Ctsbtm1Jde
Ctsltm1Cptr/Ctsltm1Cptr
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctsbtm1Jde mutation (3 available); any Ctsb mutation (42 available)
Ctsltm1Cptr mutation (2 available); any Ctsl mutation (32 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Cerebral and cerebellar atrophy in Ctsbtm1Jde/Ctsbtm1Jde Ctsltm1Cptr/Ctsltm1Cptr mice

mortality/aging
• most double homozygous mutant mice died around day 12
• the lifespan of double-mutant mice increased by several days when healthy littermates were removed at day 7
• with continuous nursing with wetted food twice daily, four double mutant mice survived the weaning period up to 50 days old

growth/size/body
• apparent growth impairment by day 7
• double homozygous mutant mice that survived the weaning period at 50 days old weighed less than half of the expected body weight

behavior/neurological
• double homozygous mutant mice that survived the weaning period demonstrated a mild unusual tremor and subtle rear limb spasticity
• double homozygous mutant mice that survived the weaning period swayed backwards while grooming and used their tail for balance
• double homozygous mutant mice that survived the weaning period demonstrated hesitating voluntary movements

nervous system
• widespread TUNEL-positive staining in cerebral cortex and the cerebellar granule cell layer in brains of P23.5-24.5 mutant mice
• the CA3 region of the stratum pyramidale was broadened and split
• neuronal loss was paralleled by an increasing occurrence of hypertrophic astrocytes and Bergmann glia
• 50 days old mice exhibited pronounced cerebral and cerebellar atrophy
• molecular and internal granule cell layer were reduced and the Purkinje-cell layer had disappeared due to massive neuronal death in the cerebellar Purkinje- and granule-cell layers and the cerebral cortex during the third and fourth week of life

integument
• hyperproliferation of keratinocytes

cellular
• widespread TUNEL-positive staining in cerebral cortex and the cerebellar granule cell layer in brains of P23.5-24.5 mutant mice





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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory