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Phenotypes Associated with This Genotype
Genotype
MGI:4843311
Allelic
Composition
Prkcqtm1Litt/Prkcqtm1Litt
Genetic
Background
B6.129P2-Prkcqtm1Litt
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prkcqtm1Litt mutation (3 available); any Prkcq mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation

immune system
N
• mice exhibit normal lung inflammation driven by Th1 cytokines
• in mice immunized with ovalbumin in alum
• however, proliferation of T cells in mice stimulated with ovalbumin and complete Freund's adjuvant is normal
• on day 14, but not day 21, following induction of experimental autoimmune encephalomyelitis (EAE)
• Th1 stimulated T cells exhibit delayed differentiation and accumulation compared with similarly treated wild-type cells
• however, Th1 cytokine production is normal in antigen airway challenge
• accumulation of antigen-induced CD4 cells in lung draining lymph nodes during Th2 lung inflammation is decreased compared to in similarly treated wild-type mice
• following ovalbumin challenge, production of Th2 cytokines (Il4, Il5, and Il13) compared to in similarly treated wild-type mice
• stimulated CD4 T cells exhibit impaired early Th2 and Th1 differentiation compared with similarly treated wild-type cells
• from CD4 T cells stimulated by anti-CD3, anti-CD28 antibodies but not when IL2 was present (J:94285)
• from CD4 T cells from mice stimulated subcutaneously with ovalbumin and complete Freund's adjuvant (J:94285)
• following induction of experimental autoimmune encephalomyelitis (EAE) (J:129421)
• in the bronchoalveolar lavage fluid of ovalbumin challenged mice
• following induction of experimental autoimmune encephalomyelitis (EAE), splenocytes produce less IL17 compared to in similarly treated wild-type mice
• IL23-stimulated spleen cultures produce less IL17 compared with similarly treated wild-type cultures
• however, ovalbumin-stimulated splenocytes exhibit normal IL17 production
• from CD4 T cells from mice stimulated subcutaneously with ovalbumin and complete Freund's adjuvant (J:94285)
• from splenocytes on day 14, but not day 21, following induction of experimental autoimmune encephalomyelitis (EAE) (J:129421)
• in the bronchoalveolar lavage fluid of ovalbumin challenged mice (J:94285)
• from CD4 T cells stimulated by anti-CD3, anti-CD28 antibodies with or without IL2 (J:94285)
• from CD4 T cells from mice stimulated with ovalbumin in alum (J:94285)
• from splenocytes on day 14, but not day 21, following induction of experimental autoimmune encephalomyelitis (EAE) (J:129421)
• in the bronchoalveolar lavage fluid of ovalbumin challenged mice
• from CD4 T cells from mice stimulated with ovalbumin in alum
• mice treated with MOG35-55 are completely resistance to experimental autoimmune encephalomyelitis (EAE) induction (reduced inflammation, no demyelinating lesions, decreased production of Th1 cytokines IFN-gamma, IL2, and IL4, and IL17 production) compared with similarly treated wild-type mice

vision/eye
• by 10 months of age there are large confluent areas of depigmentation in addition to the retinal detachments
• by 10 months of age

respiratory system
• mice exhibit attenuated methacholine sensitivity compared with similarly treated wild-type mice

nervous system
• developmental dennervation of polyinnervated neuromuscular junctions is delayed compared to in wild-type mice
• in a twitch assay, PMA-treated muscles even with normal nerves and glia in the preparation fail to exhibit synapse loss unlike similarly treated wild-type muscles
• in a twitch assay, PMA-treated neurons with normal muscles and glia in the preparation fail to exhibit synapse loss unlike similarly treated wild-type muscles
• following stimulation, myotubes fail to exhibit a decrement in endplate potential (EPP) amplitude unlike in similarly treated wild-type cells
• following PMA treatment, muscles with wild-type nerves and glia or ventral spinal cord nerves with wild-type muscles and glia fail to exhibit a decrease in endplate amplitude compared with similarly treated wild-type muscles
• however, ventral spinal cord neurons treated with PMA and TTX exhibit a normal decrease in EPP amplitude

homeostasis/metabolism
• mice exhibit attenuated methacholine sensitivity compared with similarly treated wild-type mice
• ovalbumin-treated mice exhibit a reduction in accumulation of leukocytes, including eosinophils and lymphocytes, in bronchoalveolar lavage fluid and lung tissue, relatively normal bronchial epithelium, reduced mucus, and reduced Th2 cytokines compared with similarly treated wild-type mice

hematopoietic system
• in mice immunized with ovalbumin in alum
• however, proliferation of T cells in mice stimulated with ovalbumin and complete Freund's adjuvant is normal
• on day 14, but not day 21, following induction of experimental autoimmune encephalomyelitis (EAE)
• Th1 stimulated T cells exhibit delayed differentiation and accumulation compared with similarly treated wild-type cells
• however, Th1 cytokine production is normal in antigen airway challenge
• accumulation of antigen-induced CD4 cells in lung draining lymph nodes during Th2 lung inflammation is decreased compared to in similarly treated wild-type mice
• following ovalbumin challenge, production of Th2 cytokines (Il4, Il5, and Il13) compared to in similarly treated wild-type mice
• stimulated CD4 T cells exhibit impaired early Th2 and Th1 differentiation compared with similarly treated wild-type cells

cellular
• in mice immunized with ovalbumin in alum
• however, proliferation of T cells in mice stimulated with ovalbumin and complete Freund's adjuvant is normal
• on day 14, but not day 21, following induction of experimental autoimmune encephalomyelitis (EAE)

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
retinal detachment DOID:5327 J:237977


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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last database update
02/23/2021
MGI 6.16
The Jackson Laboratory