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Phenotypes Associated with This Genotype
Genotype
MGI:3629227
Allelic
Composition
Kat6atm1Avo/Kat6atm1Avo
Genetic
Background
involves: 129/Sv * BALB/c * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kat6atm1Avo mutation (0 available); any Kat6a mutation (35 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die within the first hour after birth

hematopoietic system
• severe dysgenesis with poor organization, absence of the medulla, and ectopic cystic structures probably of thymic origin
• frequently only 1 lobe descends
• about 1/4 the size of wild-type; however, overall body size is similar to wild-type (J:108453)
• absence or hypoplasia of the thymus (J:188772)
• lymphoid cells are reduced to 6.7 +/- 2% of wild-type; however lymphoid progenitors are able to differentiate into double positive T cells
• absence or hypoplasia of the thymus
• increase in the CD71high Ter119high population in the fetal liver
• a 30% decrease in committed erythroid progenitors in the fetal liver is detected using a colony forming assay
• at E18.5, a significant decrease in the proportion of double negative T cells is seen in the thymus
• very low cellularity (32 +/- 9% of wild-type) and very few progenitors at E18.5
• the number of progenitors decreases from 36.1 +/- 9.8% of wild-type at E12.5 to 6.8 +/- 2.5% at E18.5
• slight but significant increase in the number of nucleated red cells
• mice lack transplantable hematopoietic stem cells
• results from colony forming assays indicate that the number of committed progenitors for all hematopoietic cell lineages is reduced in the fetal liver
• the early progenitor/stem cell population in the fetal liver is reduced by about 50% compared to wild-type littermates
• fetal liver cells fail to repopulate hematopoietic cells in irradiated recipients and competition assays indicate that the population of fully functional stem cells in the fetal liver is reduced by over 2000-fold compared to wild-type
• however, hematocrit is normal and all leukocyte lineages are present
• at E18.5 the site of the spleen is only identified by a poorly developed vascular network and a slight thickening of the mesentery
• however, hematocrit is normal and all leukocyte lineages are present

cardiovascular system
• fails to develop on the left side at E10.5
• 26% of mice exhibit a pulmonary trunk curved to the right side, forming an abnormal right aortic arch and a right descending aorta, unlike in wild-type mice
• mice exhibit incompletely remodeled great vessel walls that appear dilated in diameter and thin walled compared with wild-type mice
• 95% of mice exhibit lack of separation between the left and right ventricles
• varying severity affecting either large parts of the septum or the superior, membranous part of the ventricular septum
• occasional minor bleeding is associated with the thymus

craniofacial
• craniofacial defects are seen at birth
• fails to develop on the left side at E10.5
• cleft bony palate (J:188772)

skeleton

homeostasis/metabolism
• cyanotic but not anemic at birth

immune system
• severe dysgenesis with poor organization, absence of the medulla, and ectopic cystic structures probably of thymic origin
• frequently only 1 lobe descends
• about 1/4 the size of wild-type; however, overall body size is similar to wild-type (J:108453)
• absence or hypoplasia of the thymus (J:188772)
• lymphoid cells are reduced to 6.7 +/- 2% of wild-type; however lymphoid progenitors are able to differentiate into double positive T cells
• absence or hypoplasia of the thymus
• at E18.5, a significant decrease in the proportion of double negative T cells is seen in the thymus
• at E18.5 the site of the spleen is only identified by a poorly developed vascular network and a slight thickening of the mesentery
• however, hematocrit is normal and all leukocyte lineages are present

digestive/alimentary system
• cleft bony palate (J:188772)

embryo
• fails to develop on the left side at E10.5

endocrine/exocrine glands
• severe dysgenesis with poor organization, absence of the medulla, and ectopic cystic structures probably of thymic origin
• frequently only 1 lobe descends
• about 1/4 the size of wild-type; however, overall body size is similar to wild-type (J:108453)
• absence or hypoplasia of the thymus (J:188772)
• lymphoid cells are reduced to 6.7 +/- 2% of wild-type; however lymphoid progenitors are able to differentiate into double positive T cells
• absence or hypoplasia of the thymus

growth/size/body
• cleft bony palate (J:188772)

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
DiGeorge syndrome DOID:11198 OMIM:188400
J:188772


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
09/05/2019
MGI 6.14
The Jackson Laboratory