Phenotypes associated with this allele

• Allele Symbol: Slc4a3^tm1Ges
• Allele Name: targeted mutation 1, Gary E Shull
• Allele ID: MGI:3770133
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc4a3^tm1Ges/Slc4a3^tm1Ges	involves: 129X1/SvJ	MGI:3770150
cx2	Slc4a3^tm1Ges/Slc4a3^tm1Ges Tg(Myh6-Tpm1*E180G)57Dfw/0	involves: 129X1/SvJ * FVB/N	MGI:5007682

Genotype
MGI:3770150

hm1

• Allelic Composition: Slc4a3^tm1Ges/Slc4a3^tm1Ges
• Genetic Background: involves: 129X1/SvJ

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

Retinal abnormalities in the Slc4a3^tm1Ges/Slc4a3^tm1Ges mouse

vision/eye

abnormal retina vasculature morphology ( J:129363 )

• inner retina blood vessels form sporadic loops and tortuous paths

• major vessels of the central retina have thinner diameters

increased retina apoptosis ( J:129363 )

• there is an increase in apoptotic cells in both the inner and outer nuclear retina layers

abnormal retina rod bipolar cell morphology ( J:129363 )

• aberrant sprouting of bipolar cells into the outer nuclear layer

abnormal optic nerve morphology ( J:129363 )

• astrocytic processes around optic nerve head are disorganized

abnormal eye electrophysiology ( J:129363 )

• ERG b-waves are depressed by 60% in an age independent manner

• ERG a-waves have amplitude reductions that are age dependent

blindness ( J:129363 )

• mice are blind as assessed by electroretinogram (ERG)

nervous system

abnormal astrocyte morphology ( J:129363 )

• blood vessels of the inner retina are wrapped by dense astrocytic processes

abnormal retina rod bipolar cell morphology ( J:129363 )

• aberrant sprouting of bipolar cells into the outer nuclear layer

abnormal optic nerve morphology ( J:129363 )

• astrocytic processes around optic nerve head are disorganized

cardiovascular system

abnormal retina vasculature morphology ( J:129363 )

• inner retina blood vessels form sporadic loops and tortuous paths

• major vessels of the central retina have thinner diameters

cellular

increased retina apoptosis ( J:129363 )

• there is an increase in apoptotic cells in both the inner and outer nuclear retina layers

Genotype
MGI:5007682

cx2

• Allelic Composition: Slc4a3^tm1Ges/Slc4a3^tm1Ges; Tg(Myh6-Tpm1*E180G)57Dfw/0
• Genetic Background: involves: 129X1/SvJ * FVB/N

behavior/neurological

decreased locomotor activity ( J:171021 )

• mutants show reduced activity by 2-3 months of age

cardiovascular system

cardiac hypertrophy ( J:171021 )

• cardiac hypertrophy that is similar to single Tg(Myh6-Tpm1*E180G)57Dfw mutants

decreased cardiac muscle contractility ( J:171021 )

• hearts do not exhibit an increase in contractility as the heart rate is increased and cannot be efficiently paced beyond 50-55 bpm

• beta-adrenergic stimulation of contractility and relaxation are reduced in mutants relative to both wild-type and single Tg(Myh6-Tpm1*E180G)57Dfw mutants

abnormal cardiac muscle relaxation ( J:171021 )

• beta-adrenergic stimulation of contractility and relaxation are reduced in mutants relative to both wild-type and single Tg(Myh6-Tpm1*E180G)57Dfw mutants

decreased left ventricle systolic pressure ( J:171021 )

• systolic left ventricular pressure is lower compared with wild-type mice or Tg(Myh6-Tpm1*E180G)57Dfw mutants under basal conditions and after beta-adrenergic stimulation

abnormal heart rate ( J:171021 )

• mutants are less able than single Tg(Myh6-Tpm1*E180G)57Dfw mutants to achieve or sustain heart rates at the higher frequencies

decreased heart rate ( J:171021 )

• during beta-adrenergic stimulation via infusion of dobutamine, heart rate is reduced in mutants compared with wild-type mice or single Tg(Myh6-Tpm1*E180G)57Dfw mutants

decreased mean systemic arterial blood pressure ( J:171021 )

• mean arterial pressure is reduced under both basal and stimulated conditions

congestive heart failure ( J:171021 )

• mutants appear sicker than single Tg(Myh6-Tpm1*E180G)57Dfw mice at 2-3 months of age and exhibit a negative force-frequency response (FFR) compared to wild-type mice which show a positive FFR, an indicator of heart failure

homeostasis/metabolism

edema ( J:171021 )

• thoracic fluid is increased compared to wild-type mice and single Tg(Myh6-Tpm1*E180G)57Dfw mutants

abnormal calcium ion homeostasis ( J:171021 )

• amplitude of the calcium transient is reduced in myocytes and time to 50% decay of the calcium transient is greater in myocytes, indicating impaired calcium handling compared to wild-type or single Tg(Myh6-Tpm1*E180G)57Dfw mutants

integument

rough coat ( J:171021 )

• seen by 2-3 months of age

mortality/aging

premature death ( J:171021 )

• reduction in survival

muscle

decreased cardiac muscle contractility ( J:171021 )

• hearts do not exhibit an increase in contractility as the heart rate is increased and cannot be efficiently paced beyond 50-55 bpm

• beta-adrenergic stimulation of contractility and relaxation are reduced in mutants relative to both wild-type and single Tg(Myh6-Tpm1*E180G)57Dfw mutants

abnormal cardiac muscle relaxation ( J:171021 )

• beta-adrenergic stimulation of contractility and relaxation are reduced in mutants relative to both wild-type and single Tg(Myh6-Tpm1*E180G)57Dfw mutants

respiratory system

increased lung weight ( J:171021 )

• left lung weight/body weight ratio is increased compared to wild-type mice but elevated to the same degree as in single Tg(Myh6-Tpm1*E180G)57Dfw mutants

respiratory distress ( J:171021 )

• labored breathing is observed by 2-3 months of age

growth/size/body

cardiac hypertrophy ( J:171021 )

• cardiac hypertrophy that is similar to single Tg(Myh6-Tpm1*E180G)57Dfw mutants

increased lung weight ( J:171021 )

• left lung weight/body weight ratio is increased compared to wild-type mice but elevated to the same degree as in single Tg(Myh6-Tpm1*E180G)57Dfw mutants