Phenotypes associated with this allele

• Allele Symbol: Slc4a2^tm1Ges
• Allele Name: targeted mutation 1, Gary E Shull
• Allele ID: MGI:3050237
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc4a2^tm1Ges/Slc4a2^tm1Ges	involves: 129S6/SvEvTac	MGI:5487548
hm2	Slc4a2^tm1Ges/Slc4a2^tm1Ges	involves: 129S6/SvEvTac * Black Swiss	MGI:3050500

Genotype
MGI:5487548

hm1

• Allelic Composition: Slc4a2^tm1Ges/Slc4a2^tm1Ges
• Genetic Background: involves: 129S6/SvEvTac

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

Abnormal morphology and migration of Slc4a2^tm1Ges/Slc4a2^tm1Ges osteoclasts

skeleton

abnormal osteoclast morphology ( J:193823 )

• osteoclasts have smaller ruffled borders that do not extend deep into the cytoplasm

• actin belts in osteoclast like cells are thicker and individual podosomes are larger, more uniformly distributed and have a longer average lifespan

abnormal osteoclast physiology ( J:193823 )

• removal of bath Cl- does not change the intracellular pH of osteoclast like cells

• resting intracellular pH of cultured osteoclast like cells is more alkaline

• acidification of intracellular lysosomes is largely abrogated

immune system

abnormal osteoclast morphology ( J:193823 )

• osteoclasts have smaller ruffled borders that do not extend deep into the cytoplasm

• actin belts in osteoclast like cells are thicker and individual podosomes are larger, more uniformly distributed and have a longer average lifespan

abnormal osteoclast physiology ( J:193823 )

• removal of bath Cl- does not change the intracellular pH of osteoclast like cells

• resting intracellular pH of cultured osteoclast like cells is more alkaline

• acidification of intracellular lysosomes is largely abrogated

hematopoietic system

abnormal osteoclast morphology ( J:193823 )

• osteoclasts have smaller ruffled borders that do not extend deep into the cytoplasm

• actin belts in osteoclast like cells are thicker and individual podosomes are larger, more uniformly distributed and have a longer average lifespan

abnormal osteoclast physiology ( J:193823 )

• removal of bath Cl- does not change the intracellular pH of osteoclast like cells

• resting intracellular pH of cultured osteoclast like cells is more alkaline

• acidification of intracellular lysosomes is largely abrogated

Genotype
MGI:3050500

hm2

• Allelic Composition: Slc4a2^tm1Ges/Slc4a2^tm1Ges
• Genetic Background: involves: 129S6/SvEvTac * Black Swiss

Growth retardation and lack of incisor tooth eruption in Slc4a2^tm1Ges/Slc4a2^tm1Ges mice

mortality/aging

premature death ( J:91617 )

• after 15 days of age homozygous pups display high morbidity and mortality with the oldest homozygote only reaching 40 days of age

perinatal lethality, incomplete penetrance ( J:91617 )

• at birth about 20% of homozygous pups are dead

postnatal lethality, incomplete penetrance ( J:91617 )

• after 15 days of age homozygous pups display high morbidity and mortality with the oldest homozygote only reaching 40 days of age

behavior/neurological

aphagia ( J:91617 )

• about 10 - 15 days after birth homozygous pups stop eating

ataxia ( J:91617 )

• about 10 - 15 days after birth homozygous pups develop mild ataxia

craniofacial

failure of tooth eruption ( J:91617 )

• about 10 - 15 days after birth homozygous pups display failure of both molar and incisor tooth eruption

digestive/alimentary system

abnormal esophageal epithelium morphology ( J:91617 )

• moderate hyperkeratosis is seen in the epithelium of the esophagus

abnormal gastric chief cell morphology ( J:91617 )

• fewer chief cells

• chief cells exhibit a reduction in the number of zymogen granules and a reduction in the amount of endoplasmic reticulum

abnormal gastric parietal cell morphology ( J:91617 )

• fewer parietal cells

• canalicular structures in the cytoplasm of parietal cells are greatly reduced in number

• invaginations or interdigitations of the basolateral membrane is less compact and less regular than in wild-type and the volume density of mitochondria is decreased

dilated gastric gland ( J:91617 )

• the lumens of the gastric glands are dilated with accumulation of basophilic material

abnormal stomach epithelium morphology ( J:91617 )

• moderate hyperkeratosis is seen in the non-glandular epithelium of the stomach

achlorhydria ( J:91617 )

• mutants fail to secrete gastric acid (achlorohydria)

growth/size/body

failure of tooth eruption ( J:91617 )

• about 10 - 15 days after birth homozygous pups display failure of both molar and incisor tooth eruption

decreased birth body size ( J:91617 )

• at birth 25% of the live homozygous pups are smaller than wild-type littermates

postnatal growth retardation ( J:91617 )

• about 10 - 15 days after birth homozygous pups develop severe growth retardation

hearing/vestibular/ear

deafness ( J:91617 )

• severe hearing loss is seen

skeleton

failure of tooth eruption ( J:91617 )

• about 10 - 15 days after birth homozygous pups display failure of both molar and incisor tooth eruption

abnormal skeleton development ( J:91617 )

• abnormal bone development is seen

endocrine/exocrine glands

abnormal gastric chief cell morphology ( J:91617 )

• fewer chief cells

• chief cells exhibit a reduction in the number of zymogen granules and a reduction in the amount of endoplasmic reticulum

abnormal gastric parietal cell morphology ( J:91617 )

• fewer parietal cells

• canalicular structures in the cytoplasm of parietal cells are greatly reduced in number

• invaginations or interdigitations of the basolateral membrane is less compact and less regular than in wild-type and the volume density of mitochondria is decreased

dilated gastric gland ( J:91617 )

• the lumens of the gastric glands are dilated with accumulation of basophilic material