Mouse Genome Informatics
hm1
     Airetm1Mmat/Airetm1Mmat
B6.Cg-Airetm1Mmat
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
immune system
autoimmune response ( J:96580 )
• exhibited similar autoimmune phenotypes as seen in the mixed C57BL/6 and CBA background

endocrine/exocrine glands
abnormal salivary gland morphology ( J:96580 )
• infiltration of many lymphoid cells in the salivary glands

digestive/alimentary system
abnormal salivary gland morphology ( J:96580 )
• infiltration of many lymphoid cells in the salivary glands

Mouse Models of Human Disease
 OMIM IDRef(s)
Autoimmune Polyendocrine Syndrome, Type I; APS1 240300 J:96580


Mouse Genome Informatics
hm2
     Airetm1Mmat/Airetm1Mmat
C.Cg-Airetm1Mmat
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
immune system
increased autoantibody level ( J:96580 )
• exhibited similar autoimmune phenotypes as seen in the mixed C57BL/6 and CBA background
• Background Sensitivity: demonstrated strong auto-antibodies against gastric mucosa

digestive/alimentary system
abnormal stomach mucosa morphology ( J:96580 )
• Background Sensitivity: lymphoid cell infiltration in the gastric mucosa

Mouse Models of Human Disease
 OMIM IDRef(s)
Autoimmune Polyendocrine Syndrome, Type I; APS1 240300 J:96580


Mouse Genome Informatics
hm3
     Airetm1Mmat/Airetm1Mmat
involves: C57BL/6 * CBA
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
immune system
autoimmune response ( J:96580 )
• developed autoimmunity against the defined target antigen, spectrin alpha 2 (alpha-fodrin), a ubiquitously expressed actin binding protein

endocrine/exocrine glands
endocrine/exocrine gland phenotype ( J:96580 )
N
• developed Sjogren's syndrome-like pathologic changes in the exocrine organs (J:96580)
abnormal parotid gland morphology ( J:96580 )
• infiltration of many lymphoid cells in the parotid glands
abnormal submandibular gland morphology ( J:96580 )
• infiltration of many lymphoid cells in the submandibular glands
abnormal lacrimal gland morphology ( J:96580 )
• infiltration of many lymphoid cells in the lacrimal glands
abnormal pancreas morphology ( J:96580 )
• in 1 of 10 mutants, lymphoid cell infiltration was observed in either the stomach or pancreas
abnormal lacrimal gland physiology ( J:96580 )
• secretion of tears per unit of mouse body weight was decreased

vision/eye
abnormal lacrimal gland morphology ( J:96580 )
• infiltration of many lymphoid cells in the lacrimal glands
abnormal lacrimal gland physiology ( J:96580 )
• secretion of tears per unit of mouse body weight was decreased

reproductive system
reduced fertility ( J:96580 )
• homozygous crossings produced offspring only occasionally

digestive/alimentary system
abnormal parotid gland morphology ( J:96580 )
• infiltration of many lymphoid cells in the parotid glands
abnormal submandibular gland morphology ( J:96580 )
• infiltration of many lymphoid cells in the submandibular glands
abnormal stomach morphology ( J:96580 )
• in 1 of 10 mutants, lymphoid cell infiltration was observed in either the stomach or pancreas


Mouse Genome Informatics
ht4
     Airetm1Mmat/Airetm2Mmat
involves: C57BL/6 * CBA
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
hematopoietic system
abnormal thymus morphology ( J:141379 )
• GFP expressing cells are less complex in shape compared to GFP expressing cells in mice with one wild type allele
• distribution of GFP expressing cells is altered similar to mice homozygous for Airetm2Mmat

immune system
abnormal thymus morphology ( J:141379 )
• GFP expressing cells are less complex in shape compared to GFP expressing cells in mice with one wild type allele
• distribution of GFP expressing cells is altered similar to mice homozygous for Airetm2Mmat
autoimmune response ( J:141379 )
• display autoimmune pathology with onset at 4 to 6 weeks of age


Mouse Genome Informatics
cx5
     Airetm1Mmat/Airetm2Mmat
Tg(TcraTcrb)425Cbn/?
involves: BALB/c * C57BL/6 * CBA
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
immune system
immune system phenotype ( J:141379 )
N
• autoimmune pathology is absent unlike in mice not carrying Tg(TcraTcrb)425Cbn (J:141379)
abnormal thymus morphology ( J:141379 )
• GFP expressing cells are less complex in shape compared to GFP expressing cells in mice with one wild type allele
• distribution of GFP expressing cells is altered similar to mice homozygous for Airetm2Mmat

hematopoietic system
abnormal thymus morphology ( J:141379 )
• GFP expressing cells are less complex in shape compared to GFP expressing cells in mice with one wild type allele
• distribution of GFP expressing cells is altered similar to mice homozygous for Airetm2Mmat