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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pdpk1tm1.1Mlw
targeted mutation 1.1, Margaret A Lawlor
MGI:2677461
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pdpk1tm1.1Mlw/Pdpk1tm1.1Mlw involves: BALB/c MGI:2677592
cn2
Pdpk1tm1.1Mlw/Pdpk1tm1.1Mlw
Rag2tm1Fwa/Rag2tm1Fwa
Tnfrsf4tm2(cre)Nik/Tnfrsf4+
Gt(ROSA)26Sortm1(EYFP)Cos/Gt(ROSA)26Sor+
involves: 129S/SvEv * 129X1/SvJ * C57BL/6 MGI:5697630
cn3
Pdpk1tm1.1Mlw/Pdpk1tm1.1Mlw
Tnfrsf4tm2(cre)Nik/Tnfrsf4+
Gt(ROSA)26Sortm1(EYFP)Cos/Gt(ROSA)26Sor+
involves: 129X1/SvJ * C57BL/6 MGI:5697628
cn4
Pdpk1tm1.1Mlw/Pdpk1tm1.1Mlw
Tg(Ckmm-cre)5Khn/?
involves: BALB/c MGI:2677593


Genotype
MGI:2677592
hm1
Allelic
Composition
Pdpk1tm1.1Mlw/Pdpk1tm1.1Mlw
Genetic
Background
involves: BALB/c
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pdpk1tm1.1Mlw mutation (0 available); any Pdpk1 mutation (138 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• homozygotes born at expected ratio
• normal size




Genotype
MGI:5697630
cn2
Allelic
Composition
Pdpk1tm1.1Mlw/Pdpk1tm1.1Mlw
Rag2tm1Fwa/Rag2tm1Fwa
Tnfrsf4tm2(cre)Nik/Tnfrsf4+
Gt(ROSA)26Sortm1(EYFP)Cos/Gt(ROSA)26Sor+
Genetic
Background
involves: 129S/SvEv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1(EYFP)Cos mutation (11 available); any Gt(ROSA)26Sor mutation (944 available)
Pdpk1tm1.1Mlw mutation (0 available); any Pdpk1 mutation (138 available)
Rag2tm1Fwa mutation (48 available); any Rag2 mutation (117 available)
Tnfrsf4tm2(cre)Nik mutation (1 available); any Tnfrsf4 mutation (33 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice succumb to disease at 12-16 weeks of age

integument
• marker analysis indicates impaired keratinocyte differentiation
• mice develop mild skin dermatitis

immune system
• mice develop mild skin dermatitis

cellular
• marker analysis indicates impaired keratinocyte differentiation




Genotype
MGI:5697628
cn3
Allelic
Composition
Pdpk1tm1.1Mlw/Pdpk1tm1.1Mlw
Tnfrsf4tm2(cre)Nik/Tnfrsf4+
Gt(ROSA)26Sortm1(EYFP)Cos/Gt(ROSA)26Sor+
Genetic
Background
involves: 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1(EYFP)Cos mutation (11 available); any Gt(ROSA)26Sor mutation (944 available)
Pdpk1tm1.1Mlw mutation (0 available); any Pdpk1 mutation (138 available)
Tnfrsf4tm2(cre)Nik mutation (1 available); any Tnfrsf4 mutation (33 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice develop a wasting syndrome and succumb to disease by 11 weeks of age

growth/size/body
• mice develop an enlarged spleen

integument
• loss of hypodermal fat
• marker analysis indicates impaired keratinocyte differentiation
• mice with advanced disease show loss of skin barrier integrity at 7-8 weeks of age
• mice develop severe, systemic dermatitis starting at 5 weeks of age
• inflammation is not seen in the lung, liver, kidney or gut
• dermatitis is accompanied by hair loss
• loss of hair follicles
• mild epidermal hyperplasia and microabsceess are seen at 3 weeks of age but not at 10 days of age
• skin contains epidermal scales
• skin of mice with advanced disease contains lesions with epidermal damage, resulting in loss of skin barrier integrity
• dermatitis is accompanied by skin thickening
• increase in dermal fibrosis

immune system
• mice develop an enlarged spleen
• decrease in the frequency of Foxp3+ CD25+ Tregs with a corresponding increase in Foxp3-CD25+ effector T cells
• CD4 T cells exhibit an activated phenotype
• mice develop systemic T helper type 2 immunity
• mice develop peripheral lymphadenopathy
• mice develop severe, systemic dermatitis starting at 5 weeks of age
• inflammation is not seen in the lung, liver, kidney or gut

homeostasis/metabolism
• mice with advanced disease show loss of skin barrier integrity at 7-8 weeks of age

hematopoietic system
• mice develop an enlarged spleen
• decrease in the frequency of Foxp3+ CD25+ Tregs with a corresponding increase in Foxp3-CD25+ effector T cells
• CD4 T cells exhibit an activated phenotype
• mice develop systemic T helper type 2 immunity

cellular
• marker analysis indicates impaired keratinocyte differentiation

adipose tissue
• loss of hypodermal fat




Genotype
MGI:2677593
cn4
Allelic
Composition
Pdpk1tm1.1Mlw/Pdpk1tm1.1Mlw
Tg(Ckmm-cre)5Khn/?
Genetic
Background
involves: BALB/c
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pdpk1tm1.1Mlw mutation (0 available); any Pdpk1 mutation (138 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• normal numbers born
• normal phenotype and survive to wk 5
• growth normal
• breathe and eat normally
• normal activity
• not diabetic to wk 8
• all die at age 5-11 wks
• drop in activity 2-3 days before death and weight loss
• noncardiac muscle normal

cardiovascular system
• by 6 wks, collagen levels, ANF and beta-myosin heavy chain levels are increased in hearts
• increased sensitivity of cardiomyocytes to hypoxia
• cardiomyocytes appear more separated from each other
• reduction in cardiomyocyte volume
• atria enlarge by 6 wks and massively inflated at death
• from 2-4 weeks, hearts became progressively smaller in relative terms but otherwise were normal
• by 6 weeks hearts were much smaller with reduced muscle mass due to smaller cardiomyocytes
• muscle mass of hearts is significantly reduced
• right ventricle is significantly enlarged by 6 weeks of age
• by 6 weeks
• extremely thin by death
• by 8 weeks of age, exhibit an increase in Z-line thickness, a feature of dilated cardiomyopathy
• echocardiograms at 5-6 weeks revealing development of heart failure
• reduced fractional shortening and ejection fraction

growth/size/body
• observe a significant reduction in body weight 2-3 days before mutants die

muscle
• cardiomyocytes appear more separated from each other
• reduction in cardiomyocyte volume
• muscle mass of hearts is significantly reduced
• by 8 weeks of age, exhibit an increase in Z-line thickness, a feature of dilated cardiomyopathy
• reduced fractional shortening and ejection fraction
• thicker Z-line by 8 weeks of age





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last database update
05/14/2024
MGI 6.23
The Jackson Laboratory