All Phenotypes Ednrb<tm1Nrd> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Ednrb^tm1Nrd/Ednrb^tm1Nrd Gt(ROSA)26Sor^{tm14(CAG-tdTomato)Hze}/Gt(ROSA)26Sor⁺ H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6 * CBA/J	MGI:5896991
cn2	Ednrb^tm1Nrd/Ednrb^tm1Nrd Gt(ROSA)26Sor^{tm14(CAG-tdTomato)Hze}/Gt(ROSA)26Sor⁺ Tg(Tyr-cre/ERT2)13Bos/0	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6J	MGI:6269398
cn3	Ednrb^tm1Nrd/Ednrb^tm1Nrd Gt(ROSA)26Sor^tm1(EYFP)Cos/Gt(ROSA)26Sor⁺ H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA/J	MGI:3814191
cn4	Ednrb^tm1Nrd/Ednrb^tm1Nrd Tg(Dct-lacZ)#Ove/0 Tg(Tyr-cre/ERT2)13Bos/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N	MGI:6269406

♀	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

Allelic Composition	Ednrb^tm1Nrd/Ednrb^tm1Nrd Gt(ROSA)26Sor^{tm14(CAG-tdTomato)Hze}/Gt(ROSA)26Sor⁺ Tg(Tyr-cre/ERT2)13Bos/0
Genetic Background	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ednrb^tm1Nrd mutation (1 available); any Ednrb mutation (104 available)
Gt(ROSA)26Sor^{tm14(CAG-tdTomato)Hze} mutation (5 available); any Gt(ROSA)26Sor mutation (993 available)
Tg(Tyr-cre/ERT2)13Bos mutation (12 available)

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

integument

abnormal coat/hair pigmentation ( J:231435 )

• following induction of Cre-mediated recombination by TAM treatment at 3 weeks of age (1st telogen), mice show a noticeable hair-graying phenotype by the 2nd telogen; hair graying persists through the next hair cycle (3rd telogen), unlike in control mice

abnormal hair follicle melanocyte morphology ( J:231435 )

• following TAM treatment at 3 weeks of age (1st telogen), mice exhibit unpigmented hair follicles that contain fewer differentiated melanocytes in the bulb by anagen IV

absent hair follicle melanin granules ( J:231435 )

• following TAM treatment at 3 weeks of age (1st telogen), mice exhibit unpigmented hair follicles unlike control mice

reduced hair shaft melanin granule number ( J:231435 )

• following TAM treatment at 3 weeks of age (1st telogen), >65% of hair shafts lack melanin, leading to a hair-graying phenotype at the 2nd and 3rd telogen

pigmentation

abnormal melanocyte proliferation ( J:231435 )

• following TAM treatment at 3 weeks of age (1st telogen), melanocyte stem cells (McSCs) in unpigmented hair follicles show less BrdU incorporation than those in pigmented hair follicles of control mice at anagen III

abnormal coat/hair pigmentation ( J:231435 )

abnormal hair follicle melanocyte morphology ( J:231435 )

• following TAM treatment at 3 weeks of age (1st telogen), mice exhibit unpigmented hair follicles that contain fewer differentiated melanocytes in the bulb by anagen IV

absent hair follicle melanin granules ( J:231435 )

• following TAM treatment at 3 weeks of age (1st telogen), mice exhibit unpigmented hair follicles unlike control mice

reduced hair shaft melanin granule number ( J:231435 )

• following TAM treatment at 3 weeks of age (1st telogen), >65% of hair shafts lack melanin, leading to a hair-graying phenotype at the 2nd and 3rd telogen

decreased melanocyte number ( J:231435 )

• following TAM treatment at 3 weeks of age (1st telogen), unpigmented hair follicles contain fewer differentiated melanocytes in the bulb by anagen IV, as shown by a decreased number of tomato+ melanocytes expressing differentiation markers Dct, MITF, and S100

• % of apoptotic (Casp3+) bulb melanocytes is significantly increased relative to that in control mice at anagen VI

cellular

abnormal melanocyte proliferation ( J:231435 )

Allelic Composition	Ednrb^tm1Nrd/Ednrb^tm1Nrd Gt(ROSA)26Sor^tm1(EYFP)Cos/Gt(ROSA)26Sor⁺ H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ednrb^tm1Nrd mutation (1 available); any Ednrb mutation (104 available)
Gt(ROSA)26Sor^tm1(EYFP)Cos mutation (11 available); any Gt(ROSA)26Sor mutation (993 available)
H2az2^{Tg(Wnt1-cre)11Rth} mutation (2 available); any H2az2 mutation (26 available)

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

mortality/aging

premature death ( J:140320 )

• mice die 5 weeks after birth

growth/size/body

slow postnatal weight gain ( J:140320 )

• after P25

distended abdomen ( J:140320 )

digestive/alimentary system

aganglionic megacolon ( J:140320 )

pigmentation

white spotting ( J:140320 )

• mice lack coat pigment in the trunk

embryo

abnormal enteric neural crest cell migration ( J:140320 )

• enteric neural crest cells fail to reach the anus

integument

white spotting ( J:140320 )

• mice lack coat pigment in the trunk

cellular

abnormal enteric neural crest cell migration ( J:140320 )

• enteric neural crest cells fail to reach the anus

Allelic Composition	Ednrb^tm1Nrd/Ednrb^tm1Nrd Tg(Dct-lacZ)#Ove/0 Tg(Tyr-cre/ERT2)13Bos/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ednrb^tm1Nrd mutation (1 available); any Ednrb mutation (104 available)
Tg(Dct-lacZ)#Ove mutation (0 available)
Tg(Tyr-cre/ERT2)13Bos mutation (12 available)

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

pigmentation

abnormal epidermal melanocyte morphology ( J:231435 )

• following TAM treatment immediately after wounding at 8 weeks of age, mice show a significantly reduced number of epidermal melanocytes in the wound area both at day 0 and day 8 after re- epithelialization relative to control mice

• however, no signs of apoptosis are observed, suggesting normal survival of epidermal melanocytes after wounding

decreased melanocyte number ( J:231435 )

• following initial TAM treatment during 2nd anagen, the number of Dct-LacZ+ melanocyte stem cells (McSCs) in unpigmented hair follicles is significantly lower than that in control mice by the 2nd telogen; most unpigmented hair follicles completely lack McSCs by the 3rd and 4th telogen

integument

abnormal epidermal melanocyte morphology ( J:231435 )

• however, no signs of apoptosis are observed, suggesting normal survival of epidermal melanocytes after wounding

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