Phenotypes associated with this allele

• Allele Symbol: Gab3^em1Khoe
• Allele Name: endonuclease-mediated mutation 1, Kasper Hoebe
• Allele ID: MGI:6446855
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gab3^em1Khoe/Gab3^em1Khoe	C57BL/6-Gab3^em1Khoe	MGI:6446899

Genotype
MGI:6446899

hm1

• Allelic Composition: Gab3^em1Khoe/Gab3^em1Khoe
• Genetic Background: C57BL/6-Gab3^em1Khoe

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

embryo

increased trophoblast giant cell number ( J:291290 )

♀ • in spiral artery walls at gestational day 12.5 and 18.5

♀ • significant expansion of trophoblasts in labyrinth and junctional zone of placentas, leading to an overall increase in labyrinth, junctional zone and overall placenta depth at gestational day 18.5

♀ • discontinuous trophoblast invasion of decidua basalis with select areas showing deep invasion reaching uterine wall at gestational day 18.5

abnormal uterine NK cell morphology ( J:291290 )

♀ • ~70% reduction in CD45+, CD122+ CD3-, DBA- NK1.1+ NK cell frequency at gestational day 8.5

♀ • reduction in tissue resident NK (trNK) cells at implantation sites at gestation day 8.5

♀ • normal ILC1 and conventional NK (cNK) cell numbers at implantation sites at gestational day 8.5

endocrine/exocrine glands

abnormal uterine NK cell morphology ( J:291290 )

♀ • ~70% reduction in CD45+, CD122+ CD3-, DBA- NK1.1+ NK cell frequency at gestational day 8.5

♀ • reduction in tissue resident NK (trNK) cells at implantation sites at gestation day 8.5

♀ • normal ILC1 and conventional NK (cNK) cell numbers at implantation sites at gestational day 8.5

hematopoietic system

abnormal uterine NK cell morphology ( J:291290 )

♀ • ~70% reduction in CD45+, CD122+ CD3-, DBA- NK1.1+ NK cell frequency at gestational day 8.5

♀ • reduction in tissue resident NK (trNK) cells at implantation sites at gestation day 8.5

♀ • normal ILC1 and conventional NK (cNK) cell numbers at implantation sites at gestational day 8.5

decreased NK cell number ( J:291290 )

• reduced Ly49G2+ NK cell frequency

abnormal mature NK cell morphology ( J:291290 )

• impaired IL-2 and IL-15 induced priming and proliferation

abnormal NK cell physiology ( J:291290 )

• impaired ability to clear injected melanoma tumor cells (higher tumor burden)

• impaired ability to clear beta2M-deficient splenocytes

immune system

immune system phenotype ( J:291290 )

N • normal frequency and development of B cells and CD8+ and CD4+ T cells

N • normal NK cell frequency in spleen and bone marrow

N • normal NK cell maturation and expression of activating (Ly49D, Ly49H) and inhibiting Ly49 receptors

abnormal uterine NK cell morphology ( J:291290 )

♀ • ~70% reduction in CD45+, CD122+ CD3-, DBA- NK1.1+ NK cell frequency at gestational day 8.5

♀ • reduction in tissue resident NK (trNK) cells at implantation sites at gestation day 8.5

♀ • normal ILC1 and conventional NK (cNK) cell numbers at implantation sites at gestational day 8.5

decreased NK cell number ( J:291290 )

• reduced Ly49G2+ NK cell frequency

abnormal mature NK cell morphology ( J:291290 )

• impaired IL-2 and IL-15 induced priming and proliferation

abnormal NK cell physiology ( J:291290 )

• impaired ability to clear injected melanoma tumor cells (higher tumor burden)

• impaired ability to clear beta2M-deficient splenocytes

reproductive system

abnormal uterine NK cell morphology ( J:291290 )

♀ • ~70% reduction in CD45+, CD122+ CD3-, DBA- NK1.1+ NK cell frequency at gestational day 8.5

♀ • reduction in tissue resident NK (trNK) cells at implantation sites at gestation day 8.5

♀ • normal ILC1 and conventional NK (cNK) cell numbers at implantation sites at gestational day 8.5

dystocia ( J:291290 )

♀ • drastically increased rate

mortality/aging

mortality/aging ( J:291290 )

N • viable