Phenotypes associated with this allele

• Allele Symbol: Ppp3ca^tm1Jse
• Allele Name: targeted mutation 1, Jonathan G Seidman
• Allele ID: MGI:2150749
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ppp3ca^tm1Jse/Ppp3ca^tm1Jse	either: (involves: 129S4/SvJae * Black Swiss) or (involves: 129S4/SvJae * C57BL/6)	MGI:2174908
hm2	Ppp3ca^tm1Jse/Ppp3ca^tm1Jse	involves: 129S4/SvJae	MGI:3771568
hm3	Ppp3ca^tm1Jse/Ppp3ca^tm1Jse	involves: 129S4/SvJae * Black Swiss	MGI:3769692
ht4	Ppp3ca^tm1Jse/Ppp3ca^+	involves: 129S4/SvJae	MGI:3771570

Genotype
MGI:2174908

hm1

• Allelic Composition: Ppp3ca^tm1Jse/Ppp3ca^tm1Jse
• Genetic Background: either: (involves: 129S4/SvJae * Black Swiss) or (involves: 129S4/SvJae * C57BL/6)

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

immune system

decreased T cell proliferation ( J:71750 )

• T cell proliferation in response to ovalbumin stimulation is lower than for wild-type mice and is not complimented by normal antibody producing cells or IL-2

• T cells proliferation is more sensitive to cyclosporine A and FK506 exhibiting a 2- to 7-fold lower decreased in proliferation compared to wild-type mice

decreased interferon-gamma secretion ( J:71750 )

• when stimulated with ovalbumin, mice produce less interferon-gamma than wild-type mice

decreased interleukin-2 secretion ( J:71750 )

• when stimulated with ovalbumin, mice produce less IL-2 than wild-type mice

• however, primary antibody response is normal in response to TNP-ovalbumin

decreased interleukin-4 secretion ( J:71750 )

• when stimulated with ovalbumin, mice produce less IL-4 than wild-type mice

hematopoietic system

decreased T cell proliferation ( J:71750 )

• T cell proliferation in response to ovalbumin stimulation is lower than for wild-type mice and is not complimented by normal antibody producing cells or IL-2

• T cells proliferation is more sensitive to cyclosporine A and FK506 exhibiting a 2- to 7-fold lower decreased in proliferation compared to wild-type mice

cellular

decreased T cell proliferation ( J:71750 )

• T cell proliferation in response to ovalbumin stimulation is lower than for wild-type mice and is not complimented by normal antibody producing cells or IL-2

• T cells proliferation is more sensitive to cyclosporine A and FK506 exhibiting a 2- to 7-fold lower decreased in proliferation compared to wild-type mice

Genotype
MGI:3771568

hm2

• Allelic Composition: Ppp3ca^tm1Jse/Ppp3ca^tm1Jse
• Genetic Background: involves: 129S4/SvJae

mortality/aging

premature death ( J:110350 )

• most mice die between 3 and 4 weeks of age

homeostasis/metabolism

increased circulating creatinine level ( J:110350 )

• 1.7+/-0.2 mg per dl compared to 0.5+/-0.1 mg per dl in wild-type mice

decreased urine creatinine level ( J:110350 )

• 7+/-1 mg per dl urine creatinine compared to 23+/-2 mg per dl in wild-type mice

increased blood urea nitrogen level ( J:110350 )

• 104+/-34 mg per dl compared to 25+/-2 mg per dl in wild-type mice

decreased circulating glucose level ( J:110350 )

• 60+/-35 mg per dl compared to 181+/-17 mg pr dl in wild-type mice

decreased circulating calcium level ( J:110350 )

• 9.4+/-0.4 mg per dl compared to 11.0+/-0.5 mg per dl in wild-type mice

decreased urine osmolality ( J:110350 )

• 1400 mOsm per kg compared to 2200mOsm per kg in wild-type mice

• mice fail to increase their urine concentration to the same extent as wild-type mice in response to 1-desamino-8D-arginine vasopressin

renal/urinary system

decreased urine creatinine level ( J:110350 )

• 7+/-1 mg per dl urine creatinine compared to 23+/-2 mg per dl in wild-type mice

decreased urine osmolality ( J:110350 )

• 1400 mOsm per kg compared to 2200mOsm per kg in wild-type mice

• mice fail to increase their urine concentration to the same extent as wild-type mice in response to 1-desamino-8D-arginine vasopressin

growth/size/body

decreased body weight ( J:110350 , J:110822 )

• 5.3+/-0.2 g compared to 10.7+/-0.3 g for wild-type mice (J:110350)

• mice exhibit reduced body weight despite normal muscle weights for their size (25.7+/-1.6 g compared to 30.3+/-0.7 g in wild-type mice) (J:110822)

muscle

increased skeletal muscle fiber diameter ( J:110822 )

• the cross-sectional area of the soleus is increased

• however, the cross-sectional area in the extensor digitorum longus is normal

decreased skeletal muscle fiber number ( J:110822 )

• the number of fibers in the soleus is decreased

• however, fiber number in the extensor digitorum longus is normal

abnormal skeletal muscle fiber type ratio ( J:110822 )

• the gastrocnemius, biceps and triceps exhibit less oxidative/slow fiber muscle type than wild-type

• however, the oxidative/slow fiber type ratio in the soleus is normal

Genotype
MGI:3769692

hm3

• Allelic Composition: Ppp3ca^tm1Jse/Ppp3ca^tm1Jse
• Genetic Background: involves: 129S4/SvJae * Black Swiss

nervous system

abnormal hippocampal mossy fiber morphology ( J:39103 )

• mossy fibers exhibit decreased neurofilament-rich regions compared to wild-type mice

• mossy fibers exhibit abnormal cytoskeletal structures and decreased neurofilament to microtubule ratios compared to wild-type mice

Genotype
MGI:3771570

ht4

• Allelic Composition: Ppp3ca^tm1Jse/Ppp3ca⁺
• Genetic Background: involves: 129S4/SvJae

renal/urinary system

abnormal urine osmolality ( J:110350 )

• mice exhibit a slight delay in reaching maximum postnatal urine concentration compared to wild-type mice

homeostasis/metabolism

abnormal urine osmolality ( J:110350 )

• mice exhibit a slight delay in reaching maximum postnatal urine concentration compared to wild-type mice