All Phenotypes Fat4<tm1.1Hmc> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fat4^tm1.1Hmc/Fat4^tm1.1Hmc	involves: 129P2/OlaHsd	MGI:4941822
hm2	Fat4^tm1.1Hmc/Fat4^tm1.1Hmc	involves: 129P2/OlaHsd * FVB/N	MGI:3846577
cx3	Dchs1^tm1.2Irv/Dchs1^tm1.2Irv Fat4^tm1.1Hmc/Fat4^tm1.1Hmc	involves: 129 * C57BL/6 * CBA	MGI:4941823
cx4	Fat4^tm1.1Hmc/Fat4^tm1.1Hmc Fjx1^tm1Awp/Fjx1^tm1Awp	involves: 129P2/OlaHsd * 129X1/SvJ * FVB/N	MGI:3846579
cx5	Fat4^tm1.1Hmc/Fat4^tm1.1Hmc Vangl2^Lp/Vangl2⁺	involves: 129P2/OlaHsd * A * FVB/N	MGI:3846578

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

hearing/vestibular/ear

abnormal cochlea morphology ( J:169135 )

• about 20% shorter than in wild-type controls

abnormal orientation of cochlear hair cell stereociliary bundles ( J:169135 )

• mostly subtle (less than 2 degrees) differences in the average orientation of stereocilia

abnormal orientation of outer hair cell stereociliary bundles ( J:169135 )

• in the outermost row of hair cells there is a 4 degree difference in the average orientation of stereocilia

nervous system

abnormal neural tube morphology ( J:169135 )

• increase in the width to height ratio

abnormal orientation of cochlear hair cell stereociliary bundles ( J:169135 )

• mostly subtle (less than 2 degrees) differences in the average orientation of stereocilia

abnormal orientation of outer hair cell stereociliary bundles ( J:169135 )

• in the outermost row of hair cells there is a 4 degree difference in the average orientation of stereocilia

renal/urinary system

increased kidney apoptosis ( J:169135 )

• striking clusters of apoptotic cells are detected in the epithelium and mesenchyme as early as E11.5

decreased kidney cell proliferation ( J:169135 )

• a significant decrease in cell proliferation is detected in both mesenchymal and epithelial cells at E11.75

kidney cyst ( J:169135 )

abnormal kidney development ( J:169135 )

• a significant decrease in cell proliferation is detected in both mesenchymal and epithelial cells at E11.75

• striking clusters of apoptotic cells are detected in the epithelium and mesenchyme as early as E11.5

small kidney ( J:169135 )

• difference in size is first detectable at E11.5 and the difference increases until E13.5 then remains fairly consistent from E15.5 to P0

impaired branching involved in ureteric bud morphogenesis ( J:169135 )

• by E11.5 branching of the ureteric epithelium in mutants lags behind that of wild-type littermates

• by 12.5 kidney growth and branching are substantially decreased and the ureteric epithelium is wider and more irregular than in wild-type littermates

skeleton

short sternum ( J:169135 )

• shorter than normal

wide sternum ( J:169135 )

• wider than normal

abnormal vertebrae morphology ( J:169135 )

abnormal thoracic vertebrae morphology ( J:169135 )

• vertebrae in the lumbar and posterior thoracic regions show a modest increase in the width and are narrower along the anterior-posterior axis

• the centrum at the midline is malformed

abnormal lumbar vertebrae morphology ( J:169135 )

• vertebrae in the lumbar and posterior thoracic regions show a modest increase in the width and are narrower along the anterior-posterior axis

• the centrum at the midline is malformed

abnormal vertebrae development ( J:169135 )

• dual ossification centers are present in vertebrae in the lumbar and posterior thoracic regions

abnormal endochondral bone ossification ( J:169135 )

• dual ossification centers are present in vertebrae in the lumbar and posterior thoracic regions

abnormal sternum ossification ( J:169135 )

• abnormal ossification pattern

cardiovascular system

abnormal interatrial septum morphology ( J:169135 )

• the septum primum is often thinner and the ostium secundum is much larger than in wild-type littermates

digestive/alimentary system

abnormal intestine morphology ( J:169135 )

• on average total intestinal length is about 72% that of wild-type littermates

respiratory system

small lung ( J:169135 )

embryo

abnormal neural tube morphology ( J:169135 )

• increase in the width to height ratio

cellular

increased kidney apoptosis ( J:169135 )

• striking clusters of apoptotic cells are detected in the epithelium and mesenchyme as early as E11.5

decreased kidney cell proliferation ( J:169135 )

• a significant decrease in cell proliferation is detected in both mesenchymal and epithelial cells at E11.75

growth/size/body

kidney cyst ( J:169135 )

Allelic Composition	Fat4^tm1.1Hmc/Fat4^tm1.1Hmc
Genetic Background	involves: 129P2/OlaHsd * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fat4^tm1.1Hmc mutation (1 available); any Fat4 mutation (224 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:138247 )

• die at birth or immediately after birth

renal/urinary system

kidney cyst ( J:138247 )

• cystic dilations of the tubules and some Bowman's capsules

• cysts are visible by E16 and become more severe with age

• cysts appear to be the result of defective elongation of the tubules

• some large cysts have reduced cilia

abnormal kidney collecting duct morphology ( J:138247 )

• shorter and broader compared to controls

• fail to form extended tubular structures

abnormal kidney development ( J:138247 )

• tight control of oriented cell division is impaired in developing tubules

small kidney ( J:138247 )

abnormal renal tubule morphology ( J:138247 )

• generalized loss of elongated tubules at P0

• shorter and broader compared to controls

hearing/vestibular/ear

abnormal cochlea morphology ( J:138247 )

• shorter and broader compared to controls

abnormal orientation of cochlear hair cell stereociliary bundles ( J:138247 )

• subtle but distinct defects in hair cell orientation at all levels of the cochlea

growth/size/body

decreased birth body size ( J:138247 )

• runted at birth

kidney cyst ( J:138247 )

• cystic dilations of the tubules and some Bowman's capsules

• cysts are visible by E16 and become more severe with age

• cysts appear to be the result of defective elongation of the tubules

• some large cysts have reduced cilia

limbs/digits/tail

curly tail ( J:138247 )

nervous system

abnormal neural tube morphology ( J:138247 )

• broader compared to controls

abnormal orientation of cochlear hair cell stereociliary bundles ( J:138247 )

• subtle but distinct defects in hair cell orientation at all levels of the cochlea

skeleton

kyphosis ( J:138247 )

• curved body axis at birth

embryo

abnormal neural tube morphology ( J:138247 )

• broader compared to controls

Allelic Composition	Dchs1^tm1.2Irv/Dchs1^tm1.2Irv Fat4^tm1.1Hmc/Fat4^tm1.1Hmc
Genetic Background	involves: 129 * C57BL/6 * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dchs1^tm1.2Irv mutation (0 available); any Dchs1 mutation (140 available)
Fat4^tm1.1Hmc mutation (1 available); any Fat4 mutation (224 available)

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

hearing/vestibular/ear

abnormal orientation of cochlear hair cell stereociliary bundles ( J:169135 )

• mostly subtle (less than 2 degrees) differences in the average orientation of stereocilia

abnormal orientation of outer hair cell stereociliary bundles ( J:169135 )

• in the outermost row of hair cells there is a 4 degree difference in the average orientation of stereocilia

nervous system

abnormal neural tube morphology ( J:169135 )

• increase in the width to height ratio

abnormal orientation of cochlear hair cell stereociliary bundles ( J:169135 )

• mostly subtle (less than 2 degrees) differences in the average orientation of stereocilia

abnormal orientation of outer hair cell stereociliary bundles ( J:169135 )

• in the outermost row of hair cells there is a 4 degree difference in the average orientation of stereocilia

skeleton

short sternum ( J:169135 )

• shorter than normal

wide sternum ( J:169135 )

• wider than normal

abnormal thoracic vertebrae morphology ( J:169135 )

• vertebrae in the lumbar and posterior thoracic regions show a modest increase in the width and are narrower along the anterior-posterior axis

• the centrum at the midline is malformed

abnormal vertebrae development ( J:169135 )

• dual ossification centers are present in vertebrae in the lumbar and posterior thoracic regions

abnormal endochondral bone ossification ( J:169135 )

• dual ossification centers are present in vertebrae in the lumbar and posterior thoracic regions

abnormal sternum ossification ( J:169135 )

• abnormal ossification pattern

respiratory system

small lung ( J:169135 )

embryo

abnormal neural tube morphology ( J:169135 )

• increase in the width to height ratio

Allelic Composition	Fat4^tm1.1Hmc/Fat4^tm1.1Hmc Fjx1^tm1Awp/Fjx1^tm1Awp
Genetic Background	involves: 129P2/OlaHsd * 129X1/SvJ * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fat4^tm1.1Hmc mutation (1 available); any Fat4 mutation (224 available)
Fjx1^tm1Awp mutation (0 available); any Fjx1 mutation (16 available)

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:138247 )

• fewer than expected mice are found at P0

renal/urinary system

kidney cyst ( J:138247 )

• increase in the severity of cystic tubules compared to mice homozygous for Fat4^tm1.1Hmc alone

enlarged kidney ( J:138247 )

• in some cases cysts are so large that overall kidney size is dramatically increased

hydronephrosis ( J:138247 )

• associated with enlarged kidneys

duplex kidney ( J:138247 )

• associated with enlarged kidneys

double ureter ( J:138247 )

• double ureter, associated with enlarged kidneys

growth/size/body

kidney cyst ( J:138247 )

• increase in the severity of cystic tubules compared to mice homozygous for Fat4^tm1.1Hmc alone

enlarged kidney ( J:138247 )

• in some cases cysts are so large that overall kidney size is dramatically increased

Allelic Composition	Fat4^tm1.1Hmc/Fat4^tm1.1Hmc Vangl2^Lp/Vangl2⁺
Genetic Background	involves: 129P2/OlaHsd * A * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fat4^tm1.1Hmc mutation (1 available); any Fat4 mutation (224 available)
Vangl2^Lp mutation (2 available); any Vangl2 mutation (34 available)

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

renal/urinary system

kidney cyst ( J:138247 )

• increase in the severity of cystic tubules compared to mice homozygous for Fat4^tm1.1Hmc alone

growth/size/body

kidney cyst ( J:138247 )

• increase in the severity of cystic tubules compared to mice homozygous for Fat4^tm1.1Hmc alone

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