Phenotypes associated with this allele

• Allele Symbol: Zeb1^Tw
• Allele Name: twirler
• Allele ID: MGI:1861230
• Summary: 9 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Zeb1^Tw/Zeb1^Tw	B6.Cg-Zeb1^Tw	MGI:5295194
hm2	Zeb1^Tw/Zeb1^Tw	involves: C57BL/6J	MGI:2654857
hm3	Zeb1^Tw/Zeb1^Tw	Not Specified	MGI:2654876
hm4	Zeb1^Tw/Zeb1^Tw	STOCK PCS	MGI:2654855
ht5	Zeb1^Tw/Zeb1^+	B6.Cg-Zeb1^Tw	MGI:5295198
ht6	Zeb1^Tw/Zeb1^+	involves: C57BL/6J	MGI:2654860
ht7	Zeb1^Tw/Zeb1^+	STOCK PCS	MGI:2654856
ht8	Zeb1^tm1.1Ajg/Zeb1^Tw	B6.Cg-Zeb1^tm1.1Ajg/Zeb1^Tw	MGI:5295203
ht9	Zeb1^tm2Yhi/Zeb1^Tw	B6.Cg-Zeb1^tm2Yhi/Zeb1^Tw	MGI:5295200

Genotype
MGI:5295194

hm1

• Allelic Composition: Zeb1^Tw/Zeb1^Tw
• Genetic Background: B6.Cg-Zeb1^Tw

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

Inner ear morphology, hearing thresholds, and otoconia of Zeb1^Tw/Zeb1⁺ and Zeb1^Tw/Zeb1^Tw mice

hearing/vestibular/ear

decreased cochlea coiling ( J:177274 )

• shortening of the cochlear duct

absent lateral semicircular canal ( J:177274 )

decreased posterior semicircular canal size ( J:177274 )

• truncated

craniofacial

cleft palate ( J:177274 )

digestive/alimentary system

cleft palate ( J:177274 )

growth/size/body

cleft palate ( J:177274 )

Genotype
MGI:2654857

hm2

• Allelic Composition: Zeb1^Tw/Zeb1^Tw
• Genetic Background: involves: C57BL/6J

mortality/aging

neonatal lethality, complete penetrance ( J:60496 )

• homozygotes are born alive but die within 24 hrs of birth

craniofacial

abnormal premaxilla morphology ( J:60496 )

• homozygotes show absence of fusion of the premaxillary and lateral walls of the lips

• in mice with bilateral cleft lips, the premaxillary or prolabium region is protruded with absent hair follicles

abnormal turbinate morphology ( J:60496 )

• all homozygotes display malformed nasal turbinates

turbinate hypoplasia ( J:60496 )

• the nasal turbinates are reduced in size and number

abnormal palatal shelf morphology ( J:60496 )

• the epithelial layer of the palatal shelves is lined with ciliated columnar epithelium on the nasal side and keratinized epithelium on the oral side

palatal shelves fail to meet at midline ( J:60496 )

• in homozygotes, the shelves of the secondary palate are significantly shorter and smaller than normal, thus exposing the nasal septum

decreased palatal shelf size ( J:60496 )

cleft upper lip ( J:60496 )

• homozygotes exhibit either incomplete cleft lips (where the facial processes destined to form the upper lip, medial and lateral nasal prominences appear nearly fused), or complete cleft lips (with visible separation of the facial processes)

• cleft lips are either unilateral or bilateral; complete unilateral clefts are frequently associated with partial cleft lips on the other side

• 11 of 16 homozygotets displayed bilateral cleft lips; 6 of these bilateral cleft lips were complete on one side and partial on the other, 4 were complete, and 1 was partial

• the remaining 5 of 11 homozygotes showed unilateral cleft lips, 3 complete and 2 partial

bilateral cleft upper lip ( J:60496 )

• 11 of 16 homozygotets displayed bilateral cleft lips; 6 of these bilateral cleft lips were complete on one side and partial on the other, 4 were complete, and 1 was partial

unilateral cleft upper lip ( J:60496 )

• complete unilateral clefts are frequently associated with partial cleft lips on the other side; 5 of 11 homozygotes showed unilateral cleft lips, 3 complete and 2 partial

cleft palate ( J:60496 )

• in some homozygotes with incomplete cleft lips the premaxilla is normal but the hard palate is completely clefted and the nasal septum is exposed

• in others, the unilateral or bilateral clefts of the lip are complete and extend into the premaxillary region and hard palate

cleft secondary palate ( J:60496 )

• all homozygotes display a secondary cleft palate, regardless of whether the primary palate is intact or not

abnormal nasal cavity morphology ( J:60496 )

• homozygotes exhibit a disrupted nasal cavity

• however, the nasal septum remains unaffected and is straight with a midline cartilage

midline facial cleft ( J:60496 )

• all homozygotes display clefts of the midfacial region, including clefts of the palate combined with either unilateral or bilateral clefts of the lip

growth/size/body

abnormal turbinate morphology ( J:60496 )

• all homozygotes display malformed nasal turbinates

turbinate hypoplasia ( J:60496 )

• the nasal turbinates are reduced in size and number

abnormal palatal shelf morphology ( J:60496 )

• the epithelial layer of the palatal shelves is lined with ciliated columnar epithelium on the nasal side and keratinized epithelium on the oral side

palatal shelves fail to meet at midline ( J:60496 )

• in homozygotes, the shelves of the secondary palate are significantly shorter and smaller than normal, thus exposing the nasal septum

decreased palatal shelf size ( J:60496 )

cleft upper lip ( J:60496 )

• homozygotes exhibit either incomplete cleft lips (where the facial processes destined to form the upper lip, medial and lateral nasal prominences appear nearly fused), or complete cleft lips (with visible separation of the facial processes)

• cleft lips are either unilateral or bilateral; complete unilateral clefts are frequently associated with partial cleft lips on the other side

• 11 of 16 homozygotets displayed bilateral cleft lips; 6 of these bilateral cleft lips were complete on one side and partial on the other, 4 were complete, and 1 was partial

• the remaining 5 of 11 homozygotes showed unilateral cleft lips, 3 complete and 2 partial

bilateral cleft upper lip ( J:60496 )

• 11 of 16 homozygotets displayed bilateral cleft lips; 6 of these bilateral cleft lips were complete on one side and partial on the other, 4 were complete, and 1 was partial

unilateral cleft upper lip ( J:60496 )

• complete unilateral clefts are frequently associated with partial cleft lips on the other side; 5 of 11 homozygotes showed unilateral cleft lips, 3 complete and 2 partial

cleft palate ( J:60496 )

• in some homozygotes with incomplete cleft lips the premaxilla is normal but the hard palate is completely clefted and the nasal septum is exposed

• in others, the unilateral or bilateral clefts of the lip are complete and extend into the premaxillary region and hard palate

cleft secondary palate ( J:60496 )

• all homozygotes display a secondary cleft palate, regardless of whether the primary palate is intact or not

abnormal nasal cavity morphology ( J:60496 )

• homozygotes exhibit a disrupted nasal cavity

• however, the nasal septum remains unaffected and is straight with a midline cartilage

midline facial cleft ( J:60496 )

• all homozygotes display clefts of the midfacial region, including clefts of the palate combined with either unilateral or bilateral clefts of the lip

distended abdomen ( J:60496 )

• many newborn homozygotes display a bloated abdominal region

respiratory system

abnormal turbinate morphology ( J:60496 )

• all homozygotes display malformed nasal turbinates

turbinate hypoplasia ( J:60496 )

• the nasal turbinates are reduced in size and number

abnormal nasal cavity morphology ( J:60496 )

• homozygotes exhibit a disrupted nasal cavity

• however, the nasal septum remains unaffected and is straight with a midline cartilage

digestive/alimentary system

abnormal palatal shelf morphology ( J:60496 )

• the epithelial layer of the palatal shelves is lined with ciliated columnar epithelium on the nasal side and keratinized epithelium on the oral side

palatal shelves fail to meet at midline ( J:60496 )

• in homozygotes, the shelves of the secondary palate are significantly shorter and smaller than normal, thus exposing the nasal septum

decreased palatal shelf size ( J:60496 )

cleft palate ( J:60496 )

• in some homozygotes with incomplete cleft lips the premaxilla is normal but the hard palate is completely clefted and the nasal septum is exposed

• in others, the unilateral or bilateral clefts of the lip are complete and extend into the premaxillary region and hard palate

cleft secondary palate ( J:60496 )

• all homozygotes display a secondary cleft palate, regardless of whether the primary palate is intact or not

skeleton

abnormal premaxilla morphology ( J:60496 )

• homozygotes show absence of fusion of the premaxillary and lateral walls of the lips

• in mice with bilateral cleft lips, the premaxillary or prolabium region is protruded with absent hair follicles

abnormal turbinate morphology ( J:60496 )

• all homozygotes display malformed nasal turbinates

turbinate hypoplasia ( J:60496 )

• the nasal turbinates are reduced in size and number

hearing/vestibular/ear

abnormal inner ear morphology ( J:60496 )

• homozygotes exhibit inner ear defects (not shown)

Genotype
MGI:2654876

hm3

• Allelic Composition: Zeb1^Tw/Zeb1^Tw
• Genetic Background: Not Specified

nervous system

abnormal olfactory sensory neuron morphology ( J:73312 )

• the olfactory receptor neuron in the epithelium is less differentiated at E16.5 and at birth than in wild-type mice, and remains rounded in shape and euchromatic

• at E14.5, many mature olfactory receptor neurons are randomly found all over the mesenchyme

abnormal olfactory bulb morphology ( J:73312 )

• abnormally shaped olfactory bulb in newborn pups; instead of ending in a triangular cone at the rostral end of the cerebellar lobes, one or sometimes both bulbs extend into elongated tips

• the olfactory bulb often protrudes into the nasal cavity through the ethmoid bone

abnormal olfactory bulb layer morphology ( J:73312 )

• the distinct layers of the olfactory bulb are not apparent in mutants

abnormal olfactory bulb glomerular layer morphology ( J:73312 )

• the glomerular layer is virtually nonexistant

abnormal olfactory bulb mitral cell layer morphology ( J:73312 )

• mitral cells are scattered over the entire surface of the olfactory bulb

abnormal sensory neuron innervation pattern ( J:73312 )

• olfactory innervation is altered with reduced number of connections in the olfactory bulb

abnormal olfactory nerve morphology ( J:73312 )

• the olfactory nerves are not organized into distinct tracts, instead, they are loosely packed and scattered in the mesenchyme of the nasal cavity or present as clumps of fibers

• very few olfactory nerves reach the olfactory bulb

respiratory system

abnormal turbinate morphology ( J:73312 )

• the superior, middle, and inferior turbinates are not clearly defined

• present as masses of tissues

abnormal nasal cavity morphology ( J:73312 )

• severe alterations in the morphology of the nasal cavity

abnormal nasal septum morphology ( J:73312 )

• the nasal septum appears more bulbous

abnormal olfactory epithelium morphology ( J:73312 )

• the olfactory epithelium is thinner at E14.5 and at birth

abnormal olfactory sensory neuron morphology ( J:73312 )

• the olfactory receptor neuron in the epithelium is less differentiated at E16.5 and at birth than in wild-type mice, and remains rounded in shape and euchromatic

• at E14.5, many mature olfactory receptor neurons are randomly found all over the mesenchyme

craniofacial

abnormal ethmoid bone morphology ( J:73312 )

• protrusion of the olfactory bulb into the nasal cavity through the ethmoid bone is accompanied by breakage of the cribriform plate

abnormal cribriform plate morphology ( J:73312 )

• breakage of the cribriform plate

abnormal turbinate morphology ( J:73312 )

• the superior, middle, and inferior turbinates are not clearly defined

• present as masses of tissues

unilateral cleft upper lip ( J:73312 )

• unilateral cleft of the lip

cleft secondary palate ( J:73312 )

• observed in all mutants

abnormal nasal cavity morphology ( J:73312 )

• severe alterations in the morphology of the nasal cavity

abnormal nasal septum morphology ( J:73312 )

• the nasal septum appears more bulbous

abnormal olfactory epithelium morphology ( J:73312 )

• the olfactory epithelium is thinner at E14.5 and at birth

abnormal olfactory sensory neuron morphology ( J:73312 )

• the olfactory receptor neuron in the epithelium is less differentiated at E16.5 and at birth than in wild-type mice, and remains rounded in shape and euchromatic

• at E14.5, many mature olfactory receptor neurons are randomly found all over the mesenchyme

skeleton

abnormal ethmoid bone morphology ( J:73312 )

• protrusion of the olfactory bulb into the nasal cavity through the ethmoid bone is accompanied by breakage of the cribriform plate

abnormal cribriform plate morphology ( J:73312 )

• breakage of the cribriform plate

abnormal turbinate morphology ( J:73312 )

• the superior, middle, and inferior turbinates are not clearly defined

• present as masses of tissues

taste/olfaction

abnormal olfactory epithelium morphology ( J:73312 )

• the olfactory epithelium is thinner at E14.5 and at birth

abnormal olfactory sensory neuron morphology ( J:73312 )

• the olfactory receptor neuron in the epithelium is less differentiated at E16.5 and at birth than in wild-type mice, and remains rounded in shape and euchromatic

• at E14.5, many mature olfactory receptor neurons are randomly found all over the mesenchyme

digestive/alimentary system

cleft secondary palate ( J:73312 )

• observed in all mutants

growth/size/body

abnormal turbinate morphology ( J:73312 )

• the superior, middle, and inferior turbinates are not clearly defined

• present as masses of tissues

unilateral cleft upper lip ( J:73312 )

• unilateral cleft of the lip

cleft secondary palate ( J:73312 )

• observed in all mutants

abnormal nasal cavity morphology ( J:73312 )

• severe alterations in the morphology of the nasal cavity

abnormal nasal septum morphology ( J:73312 )

• the nasal septum appears more bulbous

abnormal olfactory epithelium morphology ( J:73312 )

• the olfactory epithelium is thinner at E14.5 and at birth

abnormal olfactory sensory neuron morphology ( J:73312 )

• the olfactory receptor neuron in the epithelium is less differentiated at E16.5 and at birth than in wild-type mice, and remains rounded in shape and euchromatic

• at E14.5, many mature olfactory receptor neurons are randomly found all over the mesenchyme

Genotype
MGI:2654855

hm4

• Allelic Composition: Zeb1^Tw/Zeb1^Tw
• Genetic Background: STOCK PCS

mortality/aging

neonatal lethality, complete penetrance ( J:274 )

• all homozygotes die within 24 hours of birth due to respiratory difficulty

respiratory system

respiratory distress ( J:274 )

• severely affected homozygotes die of respiratory distress

• when recovered by C-section, homozygotes with cleft palate and cleft lip can be stimulated to breathe regularly by mechanical stimulation; however, when stimulation is terminated, homozygotes become gradually cyanotic and die within a few hours

• homozygotes without cleft lip and a relatively narrow cleft palate are able to breathe normally, but if placed with a foster mother they die within 24 hrs from starvation

craniofacial

abnormal maxillary shelf morphology ( J:274 )

• either one or both maxillary processes fail to grow to the midline, leaving the medial nasal processes exposed

cleft upper lip ( J:274 )

• at birth, 13 of 30 homozygotes show cleft lip and palate

• 7 of these 13 homozygotes display bilateral cleft lip, 2 show left-sided cleft lip, and 2 show right-sided cleft lip; the side affected was not noted in the remaining 2 cases

bilateral cleft upper lip ( J:274 )

• 7 of 13 homozygotes display bilateral cleft lip

unilateral cleft upper lip ( J:274 )

• 2 show left-sided cleft lip and 2 show right-sided cleft lip

cleft palate ( J:274 )

• at birth, 13 of 30 homozygotes show cleft lip and palate; the remaining 17 show normal lips with cleft palate

• cleft palate is usually median or bilateral, although 2 left-sided and 2 right-sided clefts were also observed

• one of the left-sided clefts occurred with a left-sided cleft lip; in other unilateral cases, no cleft lip was observed

median cleft palate ( J:274 )

bilateral cleft palate ( J:274 )

unilateral cleft palate ( J:274 )

skeleton

abnormal maxillary shelf morphology ( J:274 )

• either one or both maxillary processes fail to grow to the midline, leaving the medial nasal processes exposed

behavior/neurological

abnormal suckling behavior ( J:274 )

• homozygotes without cleft lip and a relatively narrow cleft palate are able to breathe normally, but if placed with a foster mother they die within 24 hrs from starvation

• in contrast, unaffected siblings recovered by C-section and placed with foster mothers feed and grow normally

digestive/alimentary system

abnormal maxillary shelf morphology ( J:274 )

• either one or both maxillary processes fail to grow to the midline, leaving the medial nasal processes exposed

cleft palate ( J:274 )

• at birth, 13 of 30 homozygotes show cleft lip and palate; the remaining 17 show normal lips with cleft palate

• cleft palate is usually median or bilateral, although 2 left-sided and 2 right-sided clefts were also observed

• one of the left-sided clefts occurred with a left-sided cleft lip; in other unilateral cases, no cleft lip was observed

median cleft palate ( J:274 )

bilateral cleft palate ( J:274 )

unilateral cleft palate ( J:274 )

meteorism ( J:274 )

• some homozygotes with cleft lip and palate swallow large amounts of air in the stomach and intestines

growth/size/body

abnormal maxillary shelf morphology ( J:274 )

• either one or both maxillary processes fail to grow to the midline, leaving the medial nasal processes exposed

cleft upper lip ( J:274 )

• at birth, 13 of 30 homozygotes show cleft lip and palate

• 7 of these 13 homozygotes display bilateral cleft lip, 2 show left-sided cleft lip, and 2 show right-sided cleft lip; the side affected was not noted in the remaining 2 cases

bilateral cleft upper lip ( J:274 )

• 7 of 13 homozygotes display bilateral cleft lip

unilateral cleft upper lip ( J:274 )

• 2 show left-sided cleft lip and 2 show right-sided cleft lip

cleft palate ( J:274 )

• at birth, 13 of 30 homozygotes show cleft lip and palate; the remaining 17 show normal lips with cleft palate

• cleft palate is usually median or bilateral, although 2 left-sided and 2 right-sided clefts were also observed

• one of the left-sided clefts occurred with a left-sided cleft lip; in other unilateral cases, no cleft lip was observed

median cleft palate ( J:274 )

bilateral cleft palate ( J:274 )

unilateral cleft palate ( J:274 )

meteorism ( J:274 )

• some homozygotes with cleft lip and palate swallow large amounts of air in the stomach and intestines

hearing/vestibular/ear

abnormal inner ear morphology ( J:274 )

• homozygotes exhibit abnormal inner ears

Genotype
MGI:5295198

ht5

• Allelic Composition: Zeb1^Tw/Zeb1⁺
• Genetic Background: B6.Cg-Zeb1^Tw

Inner ear morphology, hearing thresholds, and otoconia of Zeb1^Tw/Zeb1⁺ and Zeb1^Tw/Zeb1^Tw mice

behavior/neurological

increased food intake ( J:177274 )

• starting at 7 weeks of age mice consume 15 - 20% more food

circling ( J:177274 )

growth/size/body

increased body weight ( J:177274 )

obese ( J:177274 )

• in adults

adipose tissue

increased percent body fat/body weight ( J:177274 )

homeostasis/metabolism

abnormal circulating hormone level ( J:177274 )

increased circulating insulin level ( J:177274 )

increased circulating leptin level ( J:177274 )

abnormal circulating lipid level ( J:177274 )

increased circulating corticosterone level ( J:177274 )

increased circulating free fatty acids level ( J:177274 )

increased circulating triglyceride level ( J:177274 )

impaired glucose tolerance ( J:177274 )

• slight glucose intolerance in females at 15 weeks of age

insulin resistance ( J:177274 )

• in females at 15 weeks of age

increased circulating adiponectin level ( J:177274 )

• elevated in the serum

hearing/vestibular/ear

abnormal cochlea morphology ( J:177274 )

• average length of the cochlear duct is 91% that of wild-type controls

abnormal semicircular canal morphology ( J:177274 )

• the contours of the canals are irregular due to small bulges and projections

abnormal lateral semicircular canal morphology ( J:177274 )

• the non-ampullated ends are irregular or constricted

enlarged otoliths ( J:177274 )

• utricles have giant otoconia visible by scanning electron microscopy

increased or absent threshold for auditory brainstem response ( J:177274 )

• increase in the binaural average ABR thresholds at 1 month of age

hematopoietic system

small thymus ( J:177274 )

• in adults

decreased leukocyte cell number ( J:177274 )

• in adults

decreased neutrophil cell number ( J:177274 )

• decrease in the number of polymorphonuclear neutrophils in adults

decreased lymphocyte cell number ( J:177274 )

• in adults

small spleen ( J:177274 )

• in adults

immune system

small thymus ( J:177274 )

• in adults

decreased leukocyte cell number ( J:177274 )

• in adults

decreased neutrophil cell number ( J:177274 )

• decrease in the number of polymorphonuclear neutrophils in adults

decreased lymphocyte cell number ( J:177274 )

• in adults

small spleen ( J:177274 )

• in adults

endocrine/exocrine glands

small thymus ( J:177274 )

• in adults

Genotype
MGI:2654860

ht6

• Allelic Composition: Zeb1^Tw/Zeb1⁺
• Genetic Background: involves: C57BL/6J

behavior/neurological

hyperactivity ( J:60496 )

• heterozygotes display hyperactivity, twirling around the cage in periodic spurts

bidirectional circling ( J:60496 )

• heterozygotes exhibit bidirectional "twirling" or circling behavior

growth/size/body

increased susceptibility to age related obesity ( J:60496 )

• most male and female heterozygotes become obese as they reach maturity

• onset of obesity varies from 2 months to 3 months of age in some heterozygotes

decreased body size ( J:60496 )

• young heterozygotes remain smaller than wild-type, despite normal feeding

reproductive system

transmission ratio distortion ( J:60496 )

• a less than 1:1 ratio of heterozygous (43.6%) to wild-type (56.4%) pups is obtained from matings of heterozygous males with wild-type females, suggesting increased lethality either in utero or prior to genotyping at 10 days after birth

female infertility ( J:60496 )

♀ • obese female heterozygotes tend to become sterile

reduced male fertility ( J:60496 )

♂ • obese male heterozygotes breed at a reduced rate

hearing/vestibular/ear

abnormal inner ear morphology ( J:60496 )

• heterozygotes display inner ear defects (not shown)

pigmentation

diluted coat color ( J:60496 )

• most heterozygotes display a lighter coat color than wild-type mice

integument

diluted coat color ( J:60496 )

• most heterozygotes display a lighter coat color than wild-type mice

sparse hair ( J:60496 )

• most heterozygotes have sparse hair

Genotype
MGI:2654856

ht7

• Allelic Composition: Zeb1^Tw/Zeb1⁺
• Genetic Background: STOCK PCS

behavior/neurological

increased aggression towards male mice ( J:274 )

• when allowed to grow up together, 2-month old male heterozygotes often begin to fight to such an extent that they must be either separated or sacrificed

abnormal postural reflex ( J:274 )

• when lifted by the tail, heterozygotes flex their back, tuck their head under, and draw their limbs backwards

• in response to a downward falling movement, heterozygotes fail to thrust their forelimbs forward, indicating absence of a landing reaction

head bobbing ( J:274 )

• heterozygotes display vertical head shaking less often than horizontal head shaking

head shaking ( J:274 )

• heterozygotes display head shaking in a horizontal plane, often combined with circling

circling ( J:274 )

• heterozygotes often exhibit circling combined with horizontal head shaking

abnormal parental behavior ( J:274 )

• some heterozygous parents of both sexes are prone to attacking and killing their young during the first week of life, esp. after being stressed in some way

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:274 )

N • heterozygotes are not deaf and generally display a normal cochlea

abnormal scala media morphology ( J:274 )

• 2 of 9 heterozygotes displayed abnormal cochlear duct morphology

• in one of these 2 heterozygotes, the left cochlear duct was normal but the right was hydropic, the organ of Corti was disorganized, and the stria vascularis was missing

• in the other, both cochlear ducts were affected, the apical region was hydropic, the organ of Corti was abnormal, and the stria vascularis was missing form the right ear

abnormal inner ear canal morphology ( J:274 )

• heterozygotes show a highly variable reduction or absence of the horizontal canal along with absence of otoliths and uneven contours of the vertical canals

decreased lateral semicircular canal size ( J:274 )

• at the very least, the horizontal canal is present and only slightly decreased in length, while the otolith number is sometimes reduced

• however, the horizontal canal and ampulla are never entirely absent

abnormal posterior semicircular canal morphology ( J:274 )

• at the very least, the posterior vertical canal displays an abnormal contour

• the uneveness of outline progresses to formation of projections from the walls of the canal

• in severe cases, these projections form branches or duplications running from the canal to the utriculus or the common crus

abnormal semicircular canal ampulla morphology ( J:274 )

• the horizontal ampulla is located more posteriorly than in normal mice

abnormal crista ampullaris morphology ( J:274 )

• the horizontal crista is always abnormal in shape and lies lateral to rather than anterior to the utricle macula

• in contrast, the ampullae and cristae of the vertical canals are normal

abnormal crista ampullaris neuroepithelium morphology ( J:274 )

• the epithelium forming the horizontal crista is folded inwards rather than upwards, forming a pit instead of a ridge in the ventromedial part of the ampulla

abnormal superior semicircular canal morphology ( J:274 )

• at the very least, the anterior vertical canal displays an abnormal contour

• the uneveness of outline progresses to formation of projections from the walls of the canal

• in severe cases, these projections form branches or duplications running from the canal to the utriculus or the common crus

• the arcuate fossa may be variably obliterated by branches from the anterior vertical canal

dilated endolymphatic duct ( J:274 )

• in some ears, the lumen of the endolymphatic ducts is sligtly dilated, suggesting some excess of endolymphatic fluid

abnormal otolith morphology ( J:274 )

• when present, otoliths are often thinner than normal

decreased otolith number ( J:274 )

• a reduction in otolith number is sometimes observed along with a slightly reduced lateral canal

absent otoliths ( J:274 )

• complete loss of otoliths is associated with severe reduction of the lateral canal and increasingly shortened and branched vertical canals

• 9 of 18 heterozygous ears lack both saccular and utricular otoliths, 7 show a normal saccular otolith with a thin utricular otolith in 3 cases, and the remaining 2 ears show a thin saccular otolith only

growth/size/body

increased susceptibility to age related obesity ( J:274 )

• starting at 3 months of age, adult heterozygotes display a tendency to become obese

• however, some heterozygotes exhibit a normal breeding life and remain slim

postnatal growth retardation ( J:274 )

• a few heterozygotes lag behind their wild-type littermates in growth

• however, the growth of young heterozygotes is usually normal

adipose tissue

increased total body fat amount ( J:274 )

• obese heterozygotes display increased deposition of subcutaneous fat in the inguinal and neck regions and between the shoulder blades

abnormal abdominal fat pad morphology ( J:274 )

• obese heterozygotes display increased abdominal fat deposition in the mesentery and around the kidneys, ovaries, and testes

abnormal inguinal fat pad morphology ( J:274 )

• obese heterozygotes display increased deposition of subcutaneous fat in the inguinal region

reproductive system

infertility ( J:274 )

• both sexes are fertile but become sterile if obesity sets in

Genotype
MGI:5295203

ht8

• Allelic Composition: Zeb1^tm1.1Ajg/Zeb1^Tw
• Genetic Background: B6.Cg-Zeb1^tm1.1Ajg/Zeb1^Tw

Inner ear abnormalities in Zeb1^tm1.1Ajg/Zeb1^Tw mice

hearing/vestibular/ear

abnormal cochlea morphology ( J:177274 )

• shortening of the cochlear duct

abnormal semicircular canal morphology ( J:177274 )

• discontinuous or ruptured semicircular canals

craniofacial

cleft palate ( J:177274 )

• in 90% of mice

digestive/alimentary system

cleft palate ( J:177274 )

• in 90% of mice

growth/size/body

cleft palate ( J:177274 )

• in 90% of mice

Genotype
MGI:5295200

ht9

• Allelic Composition: Zeb1^tm2Yhi/Zeb1^Tw
• Genetic Background: B6.Cg-Zeb1^tm2Yhi/Zeb1^Tw

Inner ear abnormality in Zeb1^tm2Yhi/Zeb1^tm2Yhi and Zeb1^tm2Yhi/Zeb1^Tw mice

hearing/vestibular/ear

abnormal lateral semicircular canal morphology ( J:177274 )

• the non-ampullated ends are irregular or constricted

behavior/neurological

circling ( J:177274 )