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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tg(PLADA)4118Rkmb
transgene insertion 4118, Michael R Blackburn
MGI:2683027
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
cx1
Adatm1Mw/Adatm1Mw
Tg(PLADA)4118Rkmb/0
involves: 129S7/SvEvBrd * C57BL/6 MGI:2683994


Genotype
MGI:2683994
cx1
Allelic
Composition
Adatm1Mw/Adatm1Mw
Tg(PLADA)4118Rkmb/0
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Adatm1Mw mutation (3 available); any Ada mutation (19 available)
Tg(PLADA)4118Rkmb mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Structural alterations in the thymus and spleen of Adatm1Mw/Adatm1Mw Tg(PLADA)4118Rkmb/0 mice

mortality/aging
• death by 3 weeks of age (J:73418)
• following birth and removal of the placenta, mice die within 3 weeks from severe pulmonary impairment due to excessive accumulation of adenosine (J:234143)
• however, treatment with adenosine deaminase enzyme replacement therapy prevents this lethality and the phenotypes described are with mice that have been treated with the replacement therapy from birth (J:234143)

hematopoietic system
• with decreased cortical-medullary demarcation
• in both thymus and spleen
• with decreased numbers of red blood cells and few megakaryocytes observed
• lymphoid counts substantially reduced

immune system
• with decreased cortical-medullary demarcation
• in both thymus and spleen
• with decreased numbers of red blood cells and few megakaryocytes observed
• lymphoid counts substantially reduced
• evidence of inflammatory cells, thickening and shedding of airway epithelium and occlusion of airways with mucous and cellular debris

renal/urinary system
N
• proteinuria and kidney abnormalities are abolished
• increased red blood cells within glomeruli
• increased red blood cells within convoluted tubules

respiratory system
• evidence of inflammatory cells, thickening and shedding of airway epithelium and occlusion of airways with mucous and cellular debris
• evident beginning at postnatal day 12 and progressively labored breathing until death

skeleton
• severe rib curvature
• enlarged costochondral junctions

endocrine/exocrine glands
• with decreased cortical-medullary demarcation

cardiovascular system
N
• hypertension is abolished

embryo
N
• placental adenosine levels are restored to normal levels, placental weights and vasculature are normal, and fetal weights from mutant dams are normal

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
adenosine deaminase deficiency DOID:5810 OMIM:102700
J:73418





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last database update
11/07/2017
MGI 6.11
The Jackson Laboratory