Phenotypes Associated with This Genotype

Genotype
MGI:5896991

• Allelic Composition: Ednrb^tm1Nrd/Ednrb^tm1Nrd; Gt(ROSA)26Sor^{tm14(CAG-tdTomato)Hze}/Gt(ROSA)26Sor⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6 * CBA/J

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

digestive/alimentary system

large intestinal inflammation ( J:233811 )

• mice develop intestinal inflammation in both the proximal and mid-colon by P26-29

• however, no inflammation is seen at earlier time points on in the small intestine

hematopoietic system

abnormal mature B cell number ( J:233811 )

• mature B-lymphocytes are reduced in Peyers patches and are enriched in the spleen

decreased B cell number ( J:233811 )

• the proportion of total B-lymphocytes in Peyers patches is decreased to about 80% of levels seen in controls, indicating a 3.6-fold reduction in the number of B cells

• mice show a decrease of B-lymphocytes in the germinal centers of spleens and a decrease of B-lymphocytes within the marginal zones

• however, no differences in pre/pro-B lymphocyte and mature B lymphocyte populations at P21 in the bone marrow

decreased germinal center B cell number ( J:233811 )

• mice show a decrease of B-lymphocytes in the germinal centers of spleens

abnormal spleen morphology ( J:233811 )

• mice exhibit splenic lymphopenia

decreased marginal zone B cell number ( J:233811 )

• mice show a decrease of B-lymphocytes within the marginal zones

decreased spleen red pulp amount ( J:233811 )

small spleen ( J:233811 )

• spleens in P21-P24 mice are smaller in size

decreased spleen weight ( J:233811 )

• spleens weigh less than those of controls as a proportion of the total body weight

decreased spleen white pulp amount ( J:233811 )

abnormal splenic cell ratio ( J:233811 )

• decrease in the proportion of total (B220+) B-lymphocytes and in the numbers of total B lymphocytes in spleens

• increase in the proportion of mature B-lymphocytes in the spleen, although numbers are decreased

decreased IgA level ( J:233811 )

• secretory IgA is decreased in the small intestine

• however, no differences in secretory IgA are seen in the nasal airway lavage or bronchoalveolar lavage and no differences in small bowel luminal IgM levels are seen

immune system

large intestinal inflammation ( J:233811 )

• mice develop intestinal inflammation in both the proximal and mid-colon by P26-29

• however, no inflammation is seen at earlier time points on in the small intestine

abnormal mature B cell number ( J:233811 )

• mature B-lymphocytes are reduced in Peyers patches and are enriched in the spleen

decreased B cell number ( J:233811 )

• the proportion of total B-lymphocytes in Peyers patches is decreased to about 80% of levels seen in controls, indicating a 3.6-fold reduction in the number of B cells

• mice show a decrease of B-lymphocytes in the germinal centers of spleens and a decrease of B-lymphocytes within the marginal zones

• however, no differences in pre/pro-B lymphocyte and mature B lymphocyte populations at P21 in the bone marrow

decreased germinal center B cell number ( J:233811 )

• mice show a decrease of B-lymphocytes in the germinal centers of spleens

abnormal spleen morphology ( J:233811 )

• mice exhibit splenic lymphopenia

decreased marginal zone B cell number ( J:233811 )

• mice show a decrease of B-lymphocytes within the marginal zones

decreased spleen red pulp amount ( J:233811 )

small spleen ( J:233811 )

• spleens in P21-P24 mice are smaller in size

decreased spleen weight ( J:233811 )

• spleens weigh less than those of controls as a proportion of the total body weight

decreased spleen white pulp amount ( J:233811 )

abnormal splenic cell ratio ( J:233811 )

• decrease in the proportion of total (B220+) B-lymphocytes and in the numbers of total B lymphocytes in spleens

• increase in the proportion of mature B-lymphocytes in the spleen, although numbers are decreased

decreased IgA level ( J:233811 )

• secretory IgA is decreased in the small intestine

• however, no differences in secretory IgA are seen in the nasal airway lavage or bronchoalveolar lavage and no differences in small bowel luminal IgM levels are seen

abnormal Peyer's patch morphology ( J:233811 )

• Peyers patches are hypocellular and exhibit B-cell lymphopenia

small Peyer's patches ( J:233811 )

• Peyers patches are small in size in P21-P24 mice but have normal architecture

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Hirschsprung's disease		DOID:10487	OMIM:600156 OMIM:606874 OMIM:606875 OMIM:608462 OMIM:611644	J:233811