Phenotypes associated with this allele

• Allele Symbol: Erap1^tm1Nsha
• Allele Name: targeted mutation 1, Nilabh Shastri
• Allele ID: MGI:3664437
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Erap1^tm1Nsha/Erap1^tm1Nsha	B6.129S6-Erap1^tm1Nsha	MGI:3706310
cx2	Erap1^tm1Nsha/Erap1^tm1Nsha Tap1^tm1Arp/Tap1^tm1Arp	B6.129-Erap1^tm1Nsha Tap1^tm1Arp	MGI:3706235
cx3	Erap1^tm1Nsha/Erap1^tm1Nsha Tap1^tm1Arp/Tap1^tm1Arp	involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/10 * DBA/2	MGI:3706311

Genotype
MGI:3706310

hm1

• Allelic Composition: Erap1^tm1Nsha/Erap1^tm1Nsha
• Genetic Background: B6.129S6-Erap1^tm1Nsha

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

immune system

abnormal CD8-positive, alpha-beta T cell physiology ( J:112389 , J:116606 )

• CD8+ T cell responses to HY (male-specific) antigens in female mutants is diminished (J:112389)

• mutant CD8+ T cells that respond to HY antigenic peptides are reduced by 20% compared to numbers of responsive cells in wild-type (J:116606)

• mutant cells elicit activation of 1-10% of naive CD8+ T cells (BEko cells)by expressing ligands recognized by these T cells, instead of only expressing only peptides that are recognized as self (J:116606)

abnormal antigen presentation via MHC class I ( J:112389 , J:116606 )

• quality of MHC-bound peptides is suboptimal, as measured by dissociation of preformed MHC class I peptides from surface of cultured splenocytes; peptide dissociation is faster from mutant cells than wild-type for all MHC class I molecules tested, and is most rapid for H-2L^d (J:112389)

• stability of peptide-MHC class I complexes is decreased (J:112389)

• large set of pMHC I complexes is absent from mutants; ~38% of CD8+ T cells respond to wild-type APCs , compared to >1% responding to mutant APCs indicating lack of tolerance to self antigens and loss of substantial portion of peptide repertoire (J:116606)

• mutant cells are immunogenic to wild-type cells, because they express structurally unique MHC I peptides resulting from lack of processing due to Arts1 deficiency (J:116606)

decreased level of surface class I molecules ( J:112389 )

• expression of H-2K^b, H-2D^b, H-2K^d, H-2D^d (-20%), and H-2L^d (-70%) is lower on mutant splenocytes than on wild-type

abnormal cytokine secretion ( J:116606 )

• fraction of cells producing IFNgamma in response to antigen expressing cells (APCs) cells from wild-type males is ~500% higher compared to wild-type, and a similar number of cells responded to cells from female wild-type mice

hematopoietic system

abnormal CD8-positive, alpha-beta T cell physiology ( J:112389 , J:116606 )

• CD8+ T cell responses to HY (male-specific) antigens in female mutants is diminished (J:112389)

• mutant CD8+ T cells that respond to HY antigenic peptides are reduced by 20% compared to numbers of responsive cells in wild-type (J:116606)

• mutant cells elicit activation of 1-10% of naive CD8+ T cells (BEko cells)by expressing ligands recognized by these T cells, instead of only expressing only peptides that are recognized as self (J:116606)

Genotype
MGI:3706235

cx2

• Allelic Composition: Erap1^tm1Nsha/Erap1^tm1Nsha; Tap1^tm1Arp/Tap1^tm1Arp
• Genetic Background: B6.129-Erap1^tm1Nsha Tap1^tm1Arp

immune system

abnormal antigen presentation via MHC class I ( J:112389 )

• processing of certain antigenic precursors in the ER is defective in mutant splenocytes, because Arts functions as a unique protease

Genotype
MGI:3706311

cx3

• Allelic Composition: Erap1^tm1Nsha/Erap1^tm1Nsha; Tap1^tm1Arp/Tap1^tm1Arp
• Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/10 * DBA/2

immune system

abnormal antigen presentation via MHC class I ( J:116606 )

• BEko cells in wild-type mice are not activated by APCs (antigen expressing cells) from double mutants, compared to activation elicited by Arts1-single null APCs; response is similar to response of wild-type BEkos to Tap1-deficient APCs