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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Btctm1Dcl
targeted mutation 1, David C Lee
MGI:2665044
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Btctm1Dcl/Btctm1Dcl involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:3622112
cx2
Btctm1Dcl/Btctm1Dcl
Hbegftm1Dcl/Hbegftm1Dcl
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:3622110


Genotype
MGI:3622112
hm1
Allelic
Composition
Btctm1Dcl/Btctm1Dcl
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Btctm1Dcl mutation (1 available); any Btc mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• homozygotes are viable, fertile and healthy with no significant differences in pancreas or cardiac valve morphology and a normal response to a glucose challenge test
• neither left atrial dilation and thrombosis nor cardiac fibrosis or ectopic cartilage formation are observed




Genotype
MGI:3622110
cx2
Allelic
Composition
Btctm1Dcl/Btctm1Dcl
Hbegftm1Dcl/Hbegftm1Dcl
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Btctm1Dcl mutation (1 available); any Btc mutation (17 available)
Hbegftm1Dcl mutation (2 available); any Hbegf mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 54% of double homozygotes die by 4 months of age while 83% are found dead within the first year, indicating a further reduction in lifespan relative to single Hbegftm1Dcl homozygotes

cardiovascular system
• newborn double homozygotes display enlarged atrioventricular valves
• adult double homozygotes exhibit left atrial dilation, rarely or never observed in single Hbegftm1Dcl homozygotes
• newborn double homozygotes display enlarged semilunar valves
• newborn double homozygotes display enlarged aortic valves; however, the mean aortic valve area of double mutants is not significantly different from that of single Hbegftm1Dcl homozygotes
• at ~2 months, moribund double homozygotes exhibit extensive intraventricular or focal epicardial fibrosis within or on the left ventricle, rarely or never observed in single Hbegftm1Dcl homozygotes
• at 4 months, male double homozygotes exhibit reduced fractional shortening (58.8 +/- 15.9) relative to wild-type males (71.8 +/- 3.3), indicating significant systolic dysfunction

muscle
• at 4 months, male double homozygotes exhibit reduced fractional shortening (58.8 +/- 15.9) relative to wild-type males (71.8 +/- 3.3), indicating significant systolic dysfunction

homeostasis/metabolism
• adult double homozygotes exhibit left atrial thrombosis, rarely or never observed in single Hbegftm1Dcl homozygotes

growth/size/body
• at 4 months, male double homozygotes exhibit a reduced body weight (29.0 +/- 2.5) relative to wild-type males (33.6 +/- 2.8 g)

skeleton
• double homozygotes display chondrocytes and ectopic cartilage formation throughout the aortic valve leaflets, similar to single Hbegftm1Dcl homozygotes





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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
10/09/2024
MGI 6.24
The Jackson Laboratory