Phenotypes associated with this allele

• Allele Symbol: Slc12a2^tm1Ges
• Allele Name: targeted mutation 1, Gary E Shull
• Allele ID: MGI:1935144
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc12a2^tm1Ges/Slc12a2^tm1Ges	Not Specified	MGI:2174739

Genotype
MGI:2174739

hm1

• Allelic Composition: Slc12a2^tm1Ges/Slc12a2^tm1Ges
• Genetic Background: Not Specified

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

Slc12a2^tm1Ges/Slc12a2^tm1Ges mice exhibit growth retardation

mortality/aging

postnatal lethality, incomplete penetrance ( J:57651 )

• incomplete penetrance; 30% dead by 3 weeks of age

growth/size/body

decreased body size ( J:57651 )

• although mutants gain weight after weaning, they remain smaller as adults than wild-type

postnatal growth retardation ( J:57651 )

• incidence at 1-3 weeks; decreasing severity with age

behavior/neurological

absent pinna reflex ( J:57651 )

abnormal motor coordination/balance ( J:57651 )

head bobbing ( J:57651 )

head tilt ( J:57651 )

• head is tilted to one side or tilted upward and backward with the nose held high

circling ( J:57651 )

spinning ( J:57651 )

hearing/vestibular/ear

collapsed Reissner membrane ( J:57651 )

abnormal membranous labyrinth morphology ( J:57651 )

• in the ampullae of the semicircular ducts, the membranous labyrinth is collapsed upon the cupula

• the membranous labyrinth in both the saccule and utricle is irregular and generally collapsed

abnormal scala media morphology ( J:57651 )

• the lumen of the cochlear duct is collapsed

• some mutants exhibit a wide scala media lumen

decreased cochlear inner hair cell number ( J:57651 )

• inner hair cells are identified only infrequently

decreased cochlear outer hair cell number ( J:57651 )

• outer hair cells are identified only infrequently

absent tunnel of Corti ( J:57651 )

• the tunnel of Corti is often absent in mutants

abnormal stria vascularis morphology ( J:57651 )

• the intercellular spaces between the marginal cell layer and deeper layers of the stria vascularis are wider than in wild-type

abnormal strial marginal cell morphology ( J:57651 )

• marginal cells lack the numerous basal processes seen in wild-type and are separated from basal and intermediate cells by intercellular spaces that are wider than in wild-type

abnormal tectorial membrane morphology ( J:57651 )

• accumulation of calcified crystalline material at the tectorial membrane

abnormal ear physiology ( J:57651 )

abnormal auditory brainstem response ( J:57651 )

• The ABR wave form is not observed in mutants, even at 99 db

deafness ( J:57651 )

digestive/alimentary system

remittent intestinal hemorrhage ( J:57651 )

• incomplete penetrance

abnormal intestine morphology ( J:57651 )

• in young mice; decreasing severity with age

coiled cecum ( J:57651 )

• worm-like appearance

abnormal colon morphology ( J:57651 )

• frequent fecal blockage

small intestinal prolapse ( J:57651 )

decreased salivation ( J:64324 )

cardiovascular system

remittent intestinal hemorrhage ( J:57651 )

• incomplete penetrance

decreased systemic arterial blood pressure ( J:57651 )

endocrine/exocrine glands

decreased salivation ( J:64324 )

adipose tissue

decreased total body fat amount ( J:57651 )

nervous system

decreased cochlear inner hair cell number ( J:57651 )

• inner hair cells are identified only infrequently

decreased cochlear outer hair cell number ( J:57651 )

• outer hair cells are identified only infrequently

abnormal cranial ganglia morphology ( J:57651 )

• reduced numbers of neuronal cell bodies in the spiral ganglion

homeostasis/metabolism

decreased salivation ( J:64324 )