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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Del(16Dgcr2-Hira)1Rak
deletion, Chr 16, Raju Kucherlapati 1
MGI:3702642
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
Del(16Dgcr2-Hira)1Rak/+ involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * FVB/N * SJL MGI:3703705
cx2
Del(16Dgcr2-Hira)1Rak/+
Tg(GNB1L,TBX1,GP1BB,SEPT5)23Bem/0
involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * FVB/N * SJL MGI:3703715
cx3
Dp(16Dgcr2-Arvcf)1Ais/Del(16Dgcr2-Hira)1Rak involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * FVB/N * SJL MGI:3703785


Genotype
MGI:3703705
ht1
Allelic
Composition
Del(16Dgcr2-Hira)1Rak/+
Genetic
Background
involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * FVB/N * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• a significant proportion of mutants die at or shortly after birth

cardiovascular system
• 47% exhibit abnormal patterning of the great vessels
• the right subclavian artery arises ectopically in many cases
• in 6% of embryos, the right subclavian artery arises from the ascending aorta
• in 16% of embryos, the right subclavian artery arises from the distal portion of the aortic arch and travels posteriorly to the right foreleg
• 10% exhibit complete interruption of the aortic arch type B, in which the interruptions occur between the left carotid artery and the left subclavian artery
• 5% of embryos exhibit a right-sided aortic arch with a left-sided ductus arteriosus; the aortic arch is posterior to the esophagus and trachea
• in 9% of mutants, the innominate artery is unusually long (more than twice the normal) prior to the origin of the subclavian artery
• the left common carotid artery arises ectopically from the proximal ascending aorta in the 5% of embryos with right-sided aortic arch
• patent ductus arteriosus is seen in cases of complete interruption of the aortic arch
• a ventricular septal defect is seen in some mutants

endocrine/exocrine glands
• 5 of 7 mutants have no detectable parathyroid glands
• however, the thyroid gland is normal in size and shape

immune system
N
• unlike patients with VCFS/DGS that show absence or hypoplasia of the thymus, mutants at E18.5 have an intact and normal sized thymus with normal T cell populations

cellular
• patent ductus arteriosus is seen in cases of complete interruption of the aortic arch




Genotype
MGI:3703715
cx2
Allelic
Composition
Del(16Dgcr2-Hira)1Rak/+
Tg(GNB1L,TBX1,GP1BB,SEPT5)23Bem/0
Genetic
Background
involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * FVB/N * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Del(16Dgcr2-Hira)1Rak mutation (0 available); any Del(16Dgcr2-Hira)1Rak mutation (0 available)
Tg(GNB1L,TBX1,GP1BB,SEPT5)23Bem mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• only 14% of double mutants exhibit vascular anomalies compared to 50% of heterozygous Del(16Dgcr2-Hira)1Rak mutants, indicating partial rescue of the defects by the transgene




Genotype
MGI:3703785
cx3
Allelic
Composition
Dp(16Dgcr2-Arvcf)1Ais/Del(16Dgcr2-Hira)1Rak
Genetic
Background
involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * FVB/N * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 14% die soon after birth compared to only 1% of heterozygous Dp(16Dcgr2-Arvcf)1Ais mutants





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last database update
07/05/2024
MGI 6.24
The Jackson Laboratory