All Phenotypes Gab2<tm1Thir> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gab2^tm1Thir/Gab2^tm1Thir	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:2663287
cn2	Gab1^tm1Nmoc/Gab1^tm1Nmoc Gab2^tm1Thir/Gab2^tm1Thir Tg(Myh6-cre)2182Mds/?	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N	MGI:3721269

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

hematopoietic system

hematopoietic system phenotype ( J:75092 )

N	• homozygotes exhibit normal numbers of red blood cells, white blood cells, and platelets in peripheral blood • no differences are detected in the numbers of macrophages and mature lymphocytes in spleen relative to wild-type mice

abnormal mast cell differentiation ( J:75092 )

• homozygotes exhibit defective mast cell development and Kitl/Kit signaling

decreased mast cell number ( J:75092 )

• homozygotes display a severe reduction in the number of mast cells in the forestomach, glandular stomach, and peritoneum relative to wild-type mice

• a less severe reduction of mast cell numbers is noted in mutant skin

abnormal mast cell physiology ( J:75092 )

• after 4-week culture of bone marrow cells with IL-3, the number of bone marrow-derived mast cells (BMMCs) recovered from homozygous mutant mice is 65% of that obtained from wild-type mice

• the level of proliferative response of homozygous mutant BMMCs restimulated with IL-3 (5 ng/mL) is 65% of wild-type BMMCs

• the level of proliferative response of homozygous mutant BMMCs stimulated with Kitl (200 ng/mL) is only 30% of wild-type BMMCs

• Kitl-induced ERK MAP kinase and Akt activation are impaired in homozygous mutant BMMCs, indicating a role in mast cell development and Kitl/Kit signaling

immune system

abnormal mast cell differentiation ( J:75092 )

• homozygotes exhibit defective mast cell development and Kitl/Kit signaling

decreased mast cell number ( J:75092 )

• homozygotes display a severe reduction in the number of mast cells in the forestomach, glandular stomach, and peritoneum relative to wild-type mice

• a less severe reduction of mast cell numbers is noted in mutant skin

abnormal mast cell physiology ( J:75092 )

• after 4-week culture of bone marrow cells with IL-3, the number of bone marrow-derived mast cells (BMMCs) recovered from homozygous mutant mice is 65% of that obtained from wild-type mice

• the level of proliferative response of homozygous mutant BMMCs restimulated with IL-3 (5 ng/mL) is 65% of wild-type BMMCs

• the level of proliferative response of homozygous mutant BMMCs stimulated with Kitl (200 ng/mL) is only 30% of wild-type BMMCs

• Kitl-induced ERK MAP kinase and Akt activation are impaired in homozygous mutant BMMCs, indicating a role in mast cell development and Kitl/Kit signaling

cellular

abnormal mast cell differentiation ( J:75092 )

• homozygotes exhibit defective mast cell development and Kitl/Kit signaling

Allelic Composition	Gab1^tm1Nmoc/Gab1^tm1Nmoc Gab2^tm1Thir/Gab2^tm1Thir Tg(Myh6-cre)2182Mds/?
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gab1^tm1Nmoc mutation (1 available); any Gab1 mutation (78 available)
Gab2^tm1Thir mutation (1 available); any Gab2 mutation (37 available)
Tg(Myh6-cre)2182Mds mutation (3 available)

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

mortality/aging

premature death ( J:124033 )

• 70% of mice die between 3 and 72 weeks due to heart failure

cardiovascular system

abnormal heart morphology ( J:124033 )

• sarcomere length in the heart is reduced

abnormal endocardium morphology ( J:124033 )

• after 3 weeks, deposits of elastic fibers and collagen in the endocardium are observed

thin interventricular septum ( J:124033 )

• at 10 weeks, the interventricular septal wall is thinned

increased heart weight ( J:124033 )

• mice have a higher heart weight-to-body weight ratio when compared to control mice

• both the left and right ventricle are enlarged

abnormal heart left ventricle morphology ( J:124033 )

• vessels in the left ventricle are abnormally dilated and are impaired in the recruitment of vascular smooth muscle cells

dilated heart ( J:124033 )

• mice that die of heart failure exhibit dilation of heart ventricles

decreased cardiac muscle contractility ( J:124033 )

• decrease in fractional shortening at 10 weeks of age

abnormal cardiac muscle relaxation ( J:124033 )

• left ventricle relaxation is impaired

increased left ventricle diastolic pressure ( J:124033 )

• at 10 weeks, the left ventricle end-diastolic dimension is increased and accompanied by decreased fractional shortening

congestive heart failure ( J:124033 )

• 70% of mice die between 3 and 72 weeks due to heart failure

muscle

decreased cardiac muscle contractility ( J:124033 )

• decrease in fractional shortening at 10 weeks of age

abnormal cardiac muscle relaxation ( J:124033 )

• left ventricle relaxation is impaired

growth/size/body

increased heart weight ( J:124033 )

• mice have a higher heart weight-to-body weight ratio when compared to control mice

• both the left and right ventricle are enlarged

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/17/2024 MGI 6.24