Phenotypes associated with this allele

• Allele Symbol: Slc4a4^em1Mdp
• Allele Name: endonuclease-mediated mutation 1, Mark D Parker
• Allele ID: MGI:8247918
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc4a4^em1Mdp/Slc4a4^em1Mdp	C57BL/6J-Slc4a4^em1Mdp	MGI:8249133

Genotype
MGI:8249133

hm1

• Allelic Composition: Slc4a4^em1Mdp/Slc4a4^em1Mdp
• Genetic Background: C57BL/6J-Slc4a4^em1Mdp

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

mortality/aging

premature death ( J:290039 )

• 50% of mice die within 6 weeks of birth, with the oldest mouse euthanized at 67 days

prenatal lethality, incomplete penetrance ( J:290039 )

• fewer than the expected numbers of homozygotes are obtained, with as many as 25% that could have died pre/perinatally

growth/size/body

abnormal enamel morphology ( J:290039 )

• enamel is chalky in appearance, chipped at the biting edge, and lacks iron pigmentation

• enamel shows differences in the medians and variance of the mineral density, the difference between enamel and dentin density is smaller compared to wild-type and enamel has a substantially more heterogenous composition

• however, no gross defects in mineral composition of the enamel is seen

abnormal enamel mineralization ( J:290039 )

• enamel hypomineralization

postnatal growth retardation ( J:290039 )

• weight at weaning and at 1 week after weaning is reduced

• weight difference at 28 days is exacerbated in males by a smaller increase over the 7 day interval

homeostasis/metabolism

hypoxemia ( J:290039 )

• mice exhibit depressed partial pressure of oxygen (pO2, -20 mm Hg)

increased circulating bicarbonate level ( J:290039 )

• mice exhibit increased bicarbonate (HCO3^-, +3 mmol/L)

hypercapnia ( J:290039 )

• mice exhibit an increased partial pressure of carbon dioxide (pCO2, +7 mm Hg)

respiratory acidosis ( J:290039 )

• mice exhibit an increased partial pressure of carbon dioxide (pCO2) with increased concentration of bicarbonate (HCO3^-) and depressed partial pressure of oxygen (pO2), which are signs of chronic (compensated) respiratory acidosis

• however, mice show normal blood pH

limbs/digits/tail

abnormal limb long bone morphology ( J:290039 )

• humeri, ulnae, femora, and tibia-fibulae are approximately 10% shorter

short limbs ( J:290039 )

• humeri, ulnae, femora, and tibia-fibulae are approximately 10% shorter

vision/eye

increased cornea thickness ( J:290039 )

• thickened corneas, with a similar degree of thickening at 25, 40, and 47 days of age

cornea opacity ( J:290039 )

• the corneal stroma reflects more light indicating greater stromal opacity

• however, slit-lamp examination does not reveal obvious signs of corneal clouding

respiratory system

respiratory acidosis ( J:290039 )

• mice exhibit an increased partial pressure of carbon dioxide (pCO2) with increased concentration of bicarbonate (HCO3^-) and depressed partial pressure of oxygen (pO2), which are signs of chronic (compensated) respiratory acidosis

• however, mice show normal blood pH

skeleton

abnormal enamel morphology ( J:290039 )

• enamel is chalky in appearance, chipped at the biting edge, and lacks iron pigmentation

• enamel shows differences in the medians and variance of the mineral density, the difference between enamel and dentin density is smaller compared to wild-type and enamel has a substantially more heterogenous composition

• however, no gross defects in mineral composition of the enamel is seen

abnormal enamel mineralization ( J:290039 )

• enamel hypomineralization

abnormal limb long bone morphology ( J:290039 )

• humeri, ulnae, femora, and tibia-fibulae are approximately 10% shorter

craniofacial

abnormal enamel morphology ( J:290039 )

• enamel is chalky in appearance, chipped at the biting edge, and lacks iron pigmentation

• enamel shows differences in the medians and variance of the mineral density, the difference between enamel and dentin density is smaller compared to wild-type and enamel has a substantially more heterogenous composition

• however, no gross defects in mineral composition of the enamel is seen

abnormal enamel mineralization ( J:290039 )

• enamel hypomineralization

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
proximal renal tubular acidosis		DOID:0061165	OMIM:179830	J:290039