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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Kcnj2tm1Swz
targeted mutation 1, Thomas L Schwarz
MGI:2183430
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Kcnj2tm1Swz/Kcnj2tm1Swz involves: 129S1/Sv * 129X1/SvJ * FVB MGI:3041557
ht2
Kcnj2tm1Swz/Kcnj2+ involves: 129S1/Sv * 129X1/SvJ * FVB MGI:7386914


Genotype
MGI:3041557
hm1
Allelic
Composition
Kcnj2tm1Swz/Kcnj2tm1Swz
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kcnj2tm1Swz mutation (1 available); any Kcnj2 mutation (30 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• all homozygous null mice died within 12 hours after birth

respiratory system
• most homozygous null pups gasped for breath
• soon after birth, mutant pups displayed a gradual swelling of their stomach and small bowel with air

behavior/neurological
• the cleft was wide and prevented mutant pups from nursing, leading to dehydration

homeostasis/metabolism
• most homozygous null pups became cyanotic

craniofacial
• neonatal anterior and posterior palatine processes were reduced in size
• the mutant maxilla appeared to be slightly narrow relative to wild-type
• however, no defects in any of the other bones and cartilage derived from the first pharyngeal arch were observed
• neonatal vomer bones were reduced in size
• in homozygous null mice, the small palatal shelves were present at either side and the nasal and oral cavities appeared contiguous
• all homozygous null pups exhibited complete cleft of the secondary palate regardless of strain background (J:78077)
• the cleft was wide and prevented mutant pups from nursing, leading to dehydration (J:78077)
• other facial midline structures appeared unaffected (J:78077)

skeleton
• neonatal anterior and posterior palatine processes were reduced in size
• the mutant maxilla appeared to be slightly narrow relative to wild-type
• however, no defects in any of the other bones and cartilage derived from the first pharyngeal arch were observed
• neonatal vomer bones were reduced in size

cardiovascular system
• inwardly rectifying K+ currents were absent in arterial myocytes isolated from homozygous null mice, whereas voltage-dependent K+ currents appeared unaffected relative to wild-type
• when the extracellular K+ concentration was increased from 6 to 15 mmol/L, cerebral arteries from homozygous null mice failed to dilate, unlike neonatal arteries from wild-type mice
• however, mutant cerebral arteries were responsive to forskolin and to changes in Ca2+ influx, indicating that other vasodilatory mechanisms remained intact

muscle
• inwardly rectifying K+ currents were absent in arterial myocytes isolated from homozygous null mice, whereas voltage-dependent K+ currents appeared unaffected relative to wild-type
• when the extracellular K+ concentration was increased from 6 to 15 mmol/L, cerebral arteries from homozygous null mice failed to dilate, unlike neonatal arteries from wild-type mice
• however, mutant cerebral arteries were responsive to forskolin and to changes in Ca2+ influx, indicating that other vasodilatory mechanisms remained intact

limbs/digits/tail
• all homozygous null newborns exhibited digit defects
• newborns exhibited preaxial digit duplication of the forelimb

growth/size/body
• neonatal anterior and posterior palatine processes were reduced in size
• in homozygous null mice, the small palatal shelves were present at either side and the nasal and oral cavities appeared contiguous
• all homozygous null pups exhibited complete cleft of the secondary palate regardless of strain background (J:78077)
• the cleft was wide and prevented mutant pups from nursing, leading to dehydration (J:78077)
• other facial midline structures appeared unaffected (J:78077)

digestive/alimentary system
• neonatal anterior and posterior palatine processes were reduced in size
• in homozygous null mice, the small palatal shelves were present at either side and the nasal and oral cavities appeared contiguous
• all homozygous null pups exhibited complete cleft of the secondary palate regardless of strain background (J:78077)
• the cleft was wide and prevented mutant pups from nursing, leading to dehydration (J:78077)
• other facial midline structures appeared unaffected (J:78077)




Genotype
MGI:7386914
ht2
Allelic
Composition
Kcnj2tm1Swz/Kcnj2+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kcnj2tm1Swz mutation (1 available); any Kcnj2 mutation (30 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• neonatal anterior and posterior palatine processes were reduced in size

skeleton
• neonatal anterior and posterior palatine processes were reduced in size
• 98% of heterozygous newborn pups showed reduced ossification in the palate

growth/size/body
• neonatal anterior and posterior palatine processes were reduced in size

digestive/alimentary system
• neonatal anterior and posterior palatine processes were reduced in size





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last database update
11/19/2024
MGI 6.24
The Jackson Laboratory