Phenotypes Associated with This Genotype

Genotype
MGI:4887579

• Allelic Composition: Mks1^hlb614/Mks1^hlb614
• Genetic Background: involves: C3H * C57BL/6

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

cardiovascular system

right aortic arch ( J:167534 )

• in some mice

abnormal direction of heart looping ( J:167534 )

• at E10.5 to E11.0, 11 of 23 mice exhibit reversed heart looping compared with wild-type mice

transposition of great arteries ( J:167534 )

dextrocardia ( J:167534 )

• in 50% of mice

small heart ( J:167534 )

• at E10.75

pericardial effusion ( J:167534 )

renal/urinary system

decreased kidney epithelial cell primary cilium length ( J:167534 )

• kidney epithelium have few short cilia unlike in wild-type mice

kidney cyst ( J:167534 )

• glomerular and tubular

enlarged kidney ( J:167534 )

abnormal renal glomerular capsule morphology ( J:167534 )

• cells in Bowman's capsule and the glomerulus have few short cilia unlike in wild-type mice

duplex kidney ( J:167534 )

nervous system

abnormal neural tube morphology ( J:167534 )

• mice exhibit abnormal dorsoventral patterning compared with wild-type mice

abnormal floor plate morphology ( J:167534 )

• cells in the floor plate (both in the ventral groove and along the lateral wall) have fewer cilia than in wild-type mice

abnormal cochlear hair cell morphology ( J:167534 )

• kinocilia are misplaced relative to stereocilia bundles compared to in wild-type mice

abnormal cochlear outer hair cell morphology ( J:167534 )

• some outer hair cells are mal-positioned compared to in wild-type mice

abnormal orientation of outer hair cell stereociliary bundles ( J:167534 )

craniofacial

abnormal craniofacial morphology ( J:167534 )

mandible hypoplasia ( J:167534 )

domed cranium ( J:167534 )

cleft upper lip ( J:167534 )

cleft palate ( J:167534 )

pointed snout ( J:167534 )

skeleton

mandible hypoplasia ( J:167534 )

domed cranium ( J:167534 )

abnormal sternum morphology ( J:167534 )

• mice exhibit mal-alignment and fissure of the sternal vertebrae compared with wild-type mice

split sternal manubrium ( J:167534 )

• mice exhibit fissure of the manubrium unlike wild-type mice

abnormal endochondral bone ossification ( J:167534 )

• ossification of cervical or thoracic vertebral bodies is delayed or absent compared to in wild-type mice

hearing/vestibular/ear

abnormal cochlear hair cell morphology ( J:167534 )

• kinocilia are misplaced relative to stereocilia bundles compared to in wild-type mice

abnormal cochlear outer hair cell morphology ( J:167534 )

• some outer hair cells are mal-positioned compared to in wild-type mice

abnormal orientation of outer hair cell stereociliary bundles ( J:167534 )

embryo

decreased embryonic cilium length ( J:167534 )

• embryonic cilia are shorter than in wild-type mice

decreased embryonic cilium number ( J:167534 )

• embryonic cilia are fewer than in wild-type mice

absent nodal flow ( J:167534 )

• no ciliary motion is detected at the embryonic node unlike in wild-type mice

abnormal neural tube morphology ( J:167534 )

• mice exhibit abnormal dorsoventral patterning compared with wild-type mice

abnormal floor plate morphology ( J:167534 )

• cells in the floor plate (both in the ventral groove and along the lateral wall) have fewer cilia than in wild-type mice

growth/size/body

cleft upper lip ( J:167534 )

cleft palate ( J:167534 )

pointed snout ( J:167534 )

kidney cyst ( J:167534 )

• glomerular and tubular

liver cyst ( J:167534 )

heterotaxia ( J:167534 )

• including randomized stomach positioning and liver situs with symmetrical midline liver

enlarged kidney ( J:167534 )

limbs/digits/tail

abnormal pollex morphology ( J:167534 )

• broadened

polydactyly ( J:167534 )

• in 88% of mice

preaxial polydactyly ( J:167534 )

• in 82% of mice exhibit preaxial digit duplication mainly associated with the hindlimb

• mice exhibit preaxial duplication that includes an extra triphalangeal first digit

• in the hindlimb and milder in the forelimb with a broadened thumb

vision/eye

enophthalmos ( J:167534 )

microphthalmia ( J:167534 )

anophthalmia ( J:167534 )

hematopoietic system

absent spleen ( J:167534 )

accessory spleen ( J:167534 )

digestive/alimentary system

cleft palate ( J:167534 )

abnormal stomach position or orientation ( J:167534 )

• positioning of the stomach is randomized

respiratory system

respiratory system phenotype ( J:167534 )

N • tracheal cilia exhibit normal morphology and physiology

liver/biliary system

abnormal liver morphology ( J:167534 )

• mice exhibit liver situs and some symmetric midline liver unlike in wild-type mice

liver cyst ( J:167534 )

immune system

absent spleen ( J:167534 )

accessory spleen ( J:167534 )

homeostasis/metabolism

pericardial effusion ( J:167534 )

cellular

decreased embryonic cilium length ( J:167534 )

• embryonic cilia are shorter than in wild-type mice

decreased embryonic cilium number ( J:167534 )

• embryonic cilia are fewer than in wild-type mice

decreased kidney epithelial cell primary cilium length ( J:167534 )

• kidney epithelium have few short cilia unlike in wild-type mice

absent nodal flow ( J:167534 )

• no ciliary motion is detected at the embryonic node unlike in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Meckel syndrome		DOID:0050778	OMIM:PS249000	J:167534