Phenotypes associated with this allele

• Allele Symbol: Foxc1^ch
• Allele Name: congenital hydrocephalus
• Allele ID: MGI:1856705
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Foxc1^ch/Foxc1^ch	CHMU/LeJ	MGI:5700552
hm2	Foxc1^ch/Foxc1^ch	involves: C57BL/6 * CHMU/Le	MGI:2170665
hm3	Foxc1^ch/Foxc1^ch	involves: CBA * STOCK Tyr^c f	MGI:3811794
ht4	Foxc1^ch/Foxc1^+	CHMU/Le	MGI:3811487
ht5	Foxc1^ch/Foxc1^+	involves: C57BL/6 * CHMU/Le	MGI:3811565
ht6	Foxc1^ch/Foxc1^+	involves: CBA * STOCK Tyr^c f	MGI:3813455

Genotype
MGI:5700552

hm1

• Allelic Composition: Foxc1^ch/Foxc1^ch
• Genetic Background: CHMU/LeJ

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

growth/size/body

decreased fetal size ( J:221866 )

• slight dwarf phenotype at E15.5

limbs/digits/tail

short limbs ( J:221866 )

skeleton

increased width of hypertrophic chondrocyte zone ( J:221866 )

• the hypertrophic chondrocyte zone of tibial growth plate is longer

abnormal sternocostal joint morphology ( J:221866 )

• disorganized rib fusion to the sternum

failure of sternum ossification ( J:221866 )

• sternum of newborns shows complete absence of hypertrophic chondrocytes and ossification

abnormal vertebrae development ( J:221866 )

• calcification of vertebrae is impaired in newborns

delayed endochondral bone ossification ( J:221866 )

• newborns show smaller ossification centers in the femurs and tibias and smaller ossification areas are already seen at E15.5

• degradation of the hypertrophic chondrocyte zone in the center of tibias is not seen at E15.5 as in wild-type tibias

Genotype
MGI:2170665

hm2

• Allelic Composition: Foxc1^ch/Foxc1^ch
• Genetic Background: involves: C57BL/6 * CHMU/Le

embryo

abnormal mesonephros morphology ( J:60834 )

• at E10.5 more mesonephic tubules are present and these are distributed more caudally up to the level of the 23rd somite

abnormal Wolffian duct morphology ( J:60834 )

• at E10.5 the posterior end is broader and expanded

• at E11 the duct appears kinked and more medial with additional small buds present anterior to the second ectopic ureteric bud

renal/urinary system

duplex kidney ( J:60834 )

bifid ureter ( J:60834 )

blind ureter ( J:60834 )

♀ • hydroureters end blindly in females

ectopic ureter ( J:60834 )

♂ • hydroureters connect to Wolffian ducts derivatives in males

hydroureter ( J:60834 )

• in mice with bifid ureter only one of the ureters is enlarged and fluid filled

ectopic ureteric bud ( J:60834 )

• at E11, an ectopic ureteric bud is seen anterior to the normal bud

reproductive system

ectopic ovary ( J:60834 )

♀ • in all females the ovaries are located more anterior, in some cases almost at the anterior border of the kidneys

ectopic testis ( J:60834 )

♂ • in 75% of newborn males testes are located at the posterior border of the kidneys rather than beside the bladder

endocrine/exocrine glands

ectopic ovary ( J:60834 )

♀ • in all females the ovaries are located more anterior, in some cases almost at the anterior border of the kidneys

ectopic testis ( J:60834 )

♂ • in 75% of newborn males testes are located at the posterior border of the kidneys rather than beside the bladder

Genotype
MGI:3811794

hm3

• Allelic Composition: Foxc1^ch/Foxc1^ch
• Genetic Background: involves: CBA * STOCK Tyr^c f

mortality/aging

neonatal lethality, complete penetrance ( J:75733 )

• die within minutes of birth

respiratory system

abnormal nasal capsule morphology ( J:75733 )

• at E12.66 the future cartilaginous septum of the nose is under developed with the posterior spur discernable but not anywhere near the pituitary region

abnormal laryngeal cartilage morphology ( J:14980 )

• at E15 no signs of chondrification are seen in the larynx and at E16 laryngeal cartilage formation continues to lag behind controls

• at birth, the cartilagines corniculate is absent

absent epiglottis ( J:14980 )

• absent at birth

abnormal arytenoid cartilage morphology ( J:14980 )

• absent at birth

abnormal cricoid cartilage morphology ( J:14980 )

• at birth the 2 dorsolateral plates are separate and a roundish piece of cartilage occupies the gap between them

abnormal thyroid cartilage morphology ( J:14980 )

• at E17 the cartilago thyreoidea consists of 2 slender pieces

• at birth the copula has formed but no other developmental progress is seen

abnormal tracheal cartilage morphology ( J:14980 )

• at E17, rings are present but smaller than normal

• at birth, the rings are thinner and tend to be somewhat disorderly

respiratory failure ( J:75733 )

• take only a few gasping breaths that fail to inflate the lungs

nervous system

intracranial hemorrhage ( J:5191 , J:75733 )

• grossly enlarged hydrocephalic ventricles are filled with hemorrhagic fluid (J:75733)

• hemorrhages become increasingly numerous and large from E16 onwards (J:75733)

• most hemorrhages occur near the midline (J:75733)

abnormal pituitary gland development ( J:75733 )

• at E12.66 the pituitary is still broadly in contact with the epithelium of the roof of the mouth

• at E14.33, the pituitary is still connected to the epithelium of the pharynx by a thick stalk

• at E16.33 the dorsoventral diameter is increased while the transverse diameter is reduced, overall the pituitary appears bulkier but has a looser structure with more blood vessels

abnormal pituitary diverticulum morphology ( J:5191 )

• at E10, the pouch is wider, shallower, and less curved in its contact with the infundibulum

• at E11, the pouch remains slightly open to the pharynx and the stalk is more broadly attached to the epithelium

• at E12, the stalk is more broadly in contact with the pharyngeal epithelium

• the stalks connection to the pharynx is still retained at E16

abnormal brain ventricular system morphology ( J:75733 )

• at E12.66 the boundary between the pallium and the choroid plexus is located in the dorsomedial edge of the ventricle rather than halfway down the medial wall

• at E16.33 the region of the fourth ventricle is wedged tightly against the osteogenous layer and no pia-arachnoid space is detectable in this region

abnormal fourth ventricle morphology ( J:75733 )

• tends to be compressed at E16.33

• the roof is shorter and the site of the foramen of Magendie (median aperture) is covered by a layer of epyndyma

abnormal lateral ventricle morphology ( J:75733 )

• at E12.66, the lateral ventricles wider in the transverse direction

dilated lateral ventricle ( J:75733 )

• hugely dilated by E16.33

abnormal choroid plexus morphology ( J:75733 )

• at E12.66, the choroid plexus region is pulled up dorsally and flattened

• at E16.33, only a rudiment of the choroid plexus is left

abnormal third ventricle morphology ( J:75733 )

• tends to be compressed at E16.33

abnormal cerebral aqueduct morphology ( J:75733 )

• tends to be compressed at E16.33

• however, no blockage is detected

abnormal striatum morphology ( J:75733 )

• the corpus striatum faces dorsally rather than medially at E12.66

• rotation of the corpus striatum is more severe at E16.33

abnormal cerebral cortex morphology ( J:75733 )

• considerably thinned by E16.33

abnormal nervous system development ( J:5191 )

• at E11, fewer cells that will form the celiac ganglion are seen

• at E12 the mass of the developing celiac ganglion is much smaller compared to controls and remains smaller from E14 - E16

abnormal roof plate morphology ( J:5191 )

• at E12, the thin roof plate appears more extensive and folding posterior to the hindbrain is less advanced than in controls

• at E13, the mesencephalon is wrinkled especially on its ependymal surface

abnormal brain development ( J:5191 , J:75733 )

• at E11, there appears to be less space between the cells in the subarachnoid mesenchyme lateral to the hindbrain (J:5191)

• at E12, the hindbrain appears enlarged especially dorsally, the area of the thin roof plate is more extensive, the differentiation between the arachnoid and subarachnoid spaces is less distinct, and the space between cells in the prospective subarachnoid space is smaller (J:5191)

• at E13, the thin part of the roof plate posterior to the choroid plexus, which corresponds to the foramen of Magendie, is larger than normal and bulges dorsally; while the epithelium that covers the foramen is thinner than normal (J:5191)

• between E12 and E13 the cisterna magna fails to develop with the space where it would normally develop instead occupied by the expanded roof of the hindbrain, in addition the subarachnoid space as a whole remains under developed (J:5191)

• brain abnormalities worsen in severity with age (J:5191)

• at E14.33, the telencephalon bulges dorsally most likely as a result of shortening of the skull basis (J:75733)

abnormal forebrain development ( J:5191 )

• at E11, the cerebral hemispheres protrude farther laterally and anteriorly than in controls as the hemispheres enlarge but fail to flatten against the side of the diencephalon

• at E11, the diencephalon is wider and rounder on its dorsal side

• at E12, the cerebral hemispheres are more bulging and the diencephalon is larger than normal

• at E13, the lumen of the diencephalon is now smaller

abnormal cerebellum development ( J:5191 )

• at E13, the cerebellum has not yet completely grown over the foramen anterius

non-obstructive hydrocephaly ( J:75733 )

• a distinct forehead bulge develops by about E13.5

• at birth the forehead bulges steeply and contains twin protuberances filled with hemorrhagic fluid

abnormal trigeminal ganglion morphology ( J:75733 )

• assumes a globular shape rather than the normal flattened lens shape at E16.33

abnormal spinal cord morphology ( J:5191 )

• at E13, the lateral walls of the dorsal part of the neural canal may be fused together in the lumbar and thoracic regions

embryo

abnormal mesonephros morphology ( J:5191 )

• at E10 - E11, mesonephric tubules extend further posteriorly compared to controls

• at E11, the mesonephric tubules overlap the region of the developing metanephros resulting in incorporation of some degenerating mesonephric tubules into the metanephros

• at E12, the urogenital fold anterior to the kidney is filled with mesonephric tubules instead of loose mesenchyme

• at E13, excess mesonephric tubules are now ventral and lateral to the kidneys

abnormal Wolffian duct morphology ( J:5191 )

• at E11, an extra ureter may be seen budding off the Wolffian duct anterior to the normal ureter

abnormal roof plate morphology ( J:5191 )

• at E12, the thin roof plate appears more extensive and folding posterior to the hindbrain is less advanced than in controls

• at E13, the mesencephalon is wrinkled especially on its ependymal surface

abnormal notochord morphology ( J:75733 )

• at E14.33, the anterior end of the notochord runs dorsally over the basi-cranial cartilage and bends ventrally around it anterior end to reach the roof of the mouth just behind the pituitary stalk

abnormal urogenital fold morphology ( J:5191 )

• at E12, the urogenital fold anterior to the kidney is filled with mesonephric tubules instead of loose mesenchyme

skeleton

abnormal limb bone morphology ( J:14980 )

abnormal carpal bone morphology ( J:14980 )

• at E14.5, the four elements of the carpus remain ill defined

• at birth the hamatum and triquetrum remain smaller, are located closer together, and in most are cases fused together

abnormal triquetrum morphology ( J:14980 )

fused carpal bones ( J:14980 )

• in most cases the hamatum and triquetrum are fused together

abnormal phalanx morphology ( J:14980 )

• all phalanges of the hind feet are reduced in size

abnormal tarsal bone morphology ( J:14980 )

• all tarsals are reduced in size

fused tarsal bones ( J:14980 )

• the naviculare and cuneiform II fuse with each other almost as soon as they can be identified

short humerus ( J:14980 )

• somewhat shorter at E13

• at E14 the caput humeri is smaller and ill defined

short radius ( J:14980 )

• somewhat shorter at E13

short ulna ( J:14980 )

• somewhat shorter at E13

abnormal femur morphology ( J:14980 )

• reduced condyles at birth

abnormal fibula morphology ( J:14980 )

• reduced proximal end at birth

abnormal tibia morphology ( J:14980 )

• reduced proximal end at birth

abnormal patella morphology ( J:14980 )

• reduced at birth

abnormal metacarpal bone morphology ( J:14980 )

• at E13 chondrification of the metacarpals is absent

• at E14 chondrification is delayed

abnormal metatarsal bone morphology ( J:14980 )

• reduced in size

absent sesamoid bone of gastrocnemius ( J:14980 )

• at birth both fabellae are absent

abnormal scapula morphology ( J:14980 )

• at E13 and E14, the processus coracoideus scapulae is shorter and blunter

abnormal axial skeleton morphology ( J:14980 )

abnormal craniofacial bone morphology ( J:14980 )

short basicranium ( J:14980 , J:75733 )

• future basis of the skull is clearly shortened at E12 (J:14980)

• at E14.33, the basis of the skull is considerably shortened, primarily in the anterior portion (J:75733)

small Meckel's cartilage ( J:75733 )

• reduced in size at E14.33

abnormal neurocranium morphology ( J:14980 , J:75733 )

• absence of bone over the cerebral hemisphere bulges (J:14980)

• hydrocephalic bulges are not covered by flat skull bones (J:75733)

absent frontal bone ( J:14980 )

• almost completely absent

abnormal occipital bone morphology ( J:14980 )

abnormal sphenoid bone morphology ( J:14980 )

• at birth, the sphenoid aborale is either completely bilateral or less horseshoe shaped with an anterior opening as a result of the persistence of a large foramen hypophyseos

• the sphenoid orale is completely absent

abnormal hyoid bone morphology ( J:14980 )

• at birth, abnormal fusion between the cornu minus and corpus ossis hyoidei is regularly seen and the ossification center normally present in the hyoid is absent

short mandible ( J:75733 )

• slightly shorter

enlarged maxillary zygomatic process ( J:14980 )

• the processus zygomaticus maxillae is much more massive than in controls

abnormal sternum morphology ( J:14980 )

• at E17, some signs of chondrification are seen but remains confined to the manubrium and xiphoid process with no cartilage formation detected in the corpus sterni

abnormal sternebra morphology ( J:14980 )

• at E14 the sternal bands are thinner and are still identifiable as separate entities

• at E15 no signs of sternal chondrification are seen

absent sternum body ( J:14980 )

• at birth, all mice lack the corpus sterni

abnormal sternum ossification ( J:5191 )

• at birth, the sternum typically has only a single ossification center or in some cases no ossification centers rather than the normal 6 centers

failure of sternum ossification ( J:14980 )

• little or no ossification occurs

abnormal xiphoid process morphology ( J:14980 )

• often has a pentagonal shape

abnormal rib morphology ( J:14980 )

• the 7th rib is widened in the form of a very obtuse angle near where the 8th rib rests against it

abnormal rib development ( J:14980 )

• at E14 ribs are thinner than in controls but of similar length and chondrification is delayed

• at E15, ribs are thinner and still not fully chondrified anteriorly

• At E16 ribs 4 to 7 show no signs of chondrification, and ribs 6 and 7 are continuous with each other anteriorly

• At E17, in the region of the 3rd to 5th ribs where there is no sternum the ribs often fuse across the midline in addition ribs 5 - 7 may fuse into one mass anteriorly

abnormal cervical vertebrae morphology ( J:14980 )

• some foramina transversaria of the cervical vertebrae are open ventrally

• the tuberculum anterius of C6 is smaller than normal

abnormal vertebral arch morphology ( J:14980 )

• often fail to meet and ossification is defective resulting in spina bifida of a purely skeletal origin

abnormal vertebral transverse process morphology ( J:14980 )

• transverse processes of the sacral and upper caudal vertebrae are reduced at birth

abnormal cartilage morphology ( J:75733 )

• at E14.33 cartilages in the hyoid and the vertebrae of the neck are reduced in size

abnormal Reichert's cartilage morphology ( J:14980 )

• at E16 the original shape of the hyoid cartilage persists unlike in controls

abnormal nasal capsule morphology ( J:75733 )

• at E12.66 the future cartilaginous septum of the nose is under developed with the posterior spur discernable but not anywhere near the pituitary region

abnormal laryngeal cartilage morphology ( J:14980 )

• at E15 no signs of chondrification are seen in the larynx and at E16 laryngeal cartilage formation continues to lag behind controls

• at birth, the cartilagines corniculate is absent

absent epiglottis ( J:14980 )

• absent at birth

abnormal arytenoid cartilage morphology ( J:14980 )

• absent at birth

abnormal cricoid cartilage morphology ( J:14980 )

• at birth the 2 dorsolateral plates are separate and a roundish piece of cartilage occupies the gap between them

abnormal thyroid cartilage morphology ( J:14980 )

• at E17 the cartilago thyreoidea consists of 2 slender pieces

• at birth the copula has formed but no other developmental progress is seen

abnormal tracheal cartilage morphology ( J:14980 )

• at E17, rings are present but smaller than normal

• at birth, the rings are thinner and tend to be somewhat disorderly

abnormal skeleton development ( J:14980 )

• development of the hand lags behind controls with cartilagenous elements laid down later and remaining smaller

abnormal vertebrae development ( J:14980 )

• at E13, the bilateral cartilage centers of the atlas are smaller, the corpus atlantis is smaller, and the 2 halves of most cervical vertebrae have not yet made contact

• at E15, the arcus anterior atlantis and the dens epistrophei are absent and some vetebrae have still failed to fuse across the midline allowing the nuclei pulposi to form continuous dumbbell like structures

• at E16 development of the transverse processes of the sacral and upper caudal vertebrae is retarded

• at later stages the lateral parts of the arcus anterior of the atlas fail to form cartilage

• at birth, almost all centers of ossification are absent except occasionally in C6 and C7, most cervical vertebrae eventually fuse but retain visible signs of their bilateral origin, a rudimentary dens epistrophei is sometimes present, and vertebral transverse processes have not yet reached the differentiation stage seen in E16 controls embryos

abnormal cartilage development ( J:14980 , J:75733 )

• at E12 the mesenchymal condensation of the arcus anterior atlantis is difficult to identify and at most is very slight compared to controls and the mesenchyme forming the cartilage of the base of the skull is smaller (J:14980)

• at E13 the mesenchymal condensation of the arcus anterior atlantis is smaller than normal (J:14980)

• at E14 the mesenchymal condensation of the arcus anterior atlantis appears to have turned into fibrous tissue rather than cartilage (J:14980)

• in general chondrification is delayed by about 1 day although it may be up to 1.5 - 2 days (J:14980)

• many elements are smaller and some cartilaginous elements (alicochlear commissure, arcus anterior atlantis, dens epistrophei, corpus sterni, middle part of the thyroid cartilage, arytenoid catilage, cartilagines corniculatae, epiglottis, and fabella) fail to form (J:14980)

• however, once begun cartilage formation proceeds at a fairly normal rate (J:14980)

• despite developmental abnormalities no defects in cartilage histology are detected (J:14980)

• at E12.66, the rudiment of the basi-cranial cartilage has a distinct posterior end but gradually loses distinctness anteriorly and cannot be identified as a separate entity around the location of the pituitary (J:75733)

• At E12.66 the distance from the posterior end of the basi-cranial cartilage to the pituitary is about 10% shorter compared to controls (J:75733)

• at E14.33, the chordal and prechordal parts of the basi-cranial cartilage fail to make contact (J:75733)

• by E16.33, the 2 parts of the basicranial cartilage make contact (J:75733)

failure of endochondral bone ossification ( J:14980 )

• absence of ossification in areas where cartilage formation has been greatly delayed

• at birth the corpus ossis hyoidei lacks an ossification center that is present in controls

failure of intramembranous bone ossification ( J:14980 )

• fails in sections of the calvarium probably as a result of overstrecthing of the osteogenic membrane

delayed bone ossification ( J:75733 )

• slight delay in ossification of the metacarpals and metatarsals

delayed endochondral bone ossification ( J:14980 )

• at E14, hypertrophy indicative of imminent onset of ossification is delayed in the humerus, radius, and ulna

• at birth ossification of the metacarpalia is retarded with ossification seen only in the 3rd and 4th metacarpalia

craniofacial

abnormal craniofacial bone morphology ( J:14980 )

short basicranium ( J:14980 , J:75733 )

• future basis of the skull is clearly shortened at E12 (J:14980)

• at E14.33, the basis of the skull is considerably shortened, primarily in the anterior portion (J:75733)

abnormal neurocranium morphology ( J:14980 , J:75733 )

• absence of bone over the cerebral hemisphere bulges (J:14980)

• hydrocephalic bulges are not covered by flat skull bones (J:75733)

absent frontal bone ( J:14980 )

• almost completely absent

abnormal occipital bone morphology ( J:14980 )

abnormal sphenoid bone morphology ( J:14980 )

• at birth, the sphenoid aborale is either completely bilateral or less horseshoe shaped with an anterior opening as a result of the persistence of a large foramen hypophyseos

• the sphenoid orale is completely absent

abnormal hyoid bone morphology ( J:14980 )

• at birth, abnormal fusion between the cornu minus and corpus ossis hyoidei is regularly seen and the ossification center normally present in the hyoid is absent

short mandible ( J:75733 )

• slightly shorter

enlarged maxillary zygomatic process ( J:14980 )

• the processus zygomaticus maxillae is much more massive than in controls

abnormal craniofacial development ( J:14980 , J:75733 )

• cartilages of the skull base are smaller and show signs of retarded development at E12 and E14 (J:14980)

• the occipital arch rudiment is less developed, the hypophyseal cartilage forms only a half-ring, and the ala hypochiasmatica is not present at E12 (J:14980)

• at E14.5, a continuous basal plate is not yet present, the hypophyseal cartilage is still widely open, the foramen hypophyseos fails to shrink, and the spheno-ethmoid commissure is not yet in contact with the ala orbitalis (J:14980)

• at E15, a continuous basal plate is still absent in most mice, the foramen hypophyseos persists and is anteriorly continuous with the optic formina, no alicochlear commissure is formed, the speno-ethmoid commissure is typically absent, and the supra-occipital cartilage has made towards enclosing the foramen magnum (J:14980)

• at E16, the gap between the nasal septum and hypophyseal cartilage is finally closed about 1.5 days later than in controls but the foramen hypophyseos remains larger than normal (J:14980)

• at E12.66, the rudiment of the basicranial cartilage has a distinct posterior end but gradually loses distinctness anteriorly and cannot be identified as a separate entity around the location of the pituitary (J:75733)

• At E12.66 the distance from the posterior end of the basicranial cartilage to the pituitary is about 10% shorter compared to controls (J:75733)

• at E14.33, the chordal and prechordal parts of the basicranial cartilage fail to make contact (J:75733)

• by E16.33, the 2 parts of the basicranial cartilage make contact but a huge cranio-pharyngeal canal, mostly occupied by the pituitary, is still present (J:75733)

• at E16.33 the osteogenic membrane in over the hydrocephalic bulges is thinned out or absent (J:75733)

small Meckel's cartilage ( J:75733 )

• reduced in size at E14.33

abnormal Reichert's cartilage morphology ( J:14980 )

• at E16 the original shape of the hyoid cartilage persists unlike in controls

abnormal nasal capsule morphology ( J:75733 )

• at E12.66 the future cartilaginous septum of the nose is under developed with the posterior spur discernable but not anywhere near the pituitary region

short snout ( J:75733 )

• pug-like appearance of the face develops by about E13.5

vision/eye

eyelids open at birth ( J:75733 )

renal/urinary system

abnormal kidney morphology ( J:5191 )

• at E14 or later, kidneys may appear larger and misshapen

abnormal kidney arterial blood vessel morphology ( J:5191 )

• abnormal arrangement of the renal arteries at P0

abnormal kidney venous blood vessel morphology ( J:5191 )

• abnormal arrangement of the renal veins at P0

enlarged kidney ( J:5191 )

• at E14 or later, kidneys may appear larger

abnormal kidney development ( J:5191 )

• at E11, the mesonphric tubules overlap the region of the developing metanephros resulting in incorporation of some degenerating mesonephric tubules into the metanephros

• at E12, migration of the kidney is retarded with the posterior end of the kidney remaining within the loop formed by the primitive and lateral roots of the common umbilical cord

• at E13, the kidneys are not yet in contact with the adrenal glands unlike in controls

• at E14 or later, occasionally a group of tubules may be seen at the anterior pole of the kidney that lack connection to the collecting tubules of the ureter

• at E13 - E15, a group of tubules may be seen, in the mesenchyme ventral to the anterior pole of the kidney, that form a swollen Bowman's capsule but lack connection to the kidney proper

abnormal metanephros morphology ( J:5191 )

• at E11, the mesonphric tubules overlap the region of the developing metanephros resulting in incorporation of some degenerating mesonephric tubules into the metanephros

hydronephrosis ( J:5191 )

• seen in newborns either unilaterally or bilaterally

duplex kidney ( J:5191 )

• at birth, a kidney may appear longer and consists of 2 parts each with a separate pelvis and ureter

abnormal ureter development ( J:5191 )

• at E14 an extra ureter on one or both sides may be seen

• extra ureters may attach to the kidney forming an extra pelvis or may lack a connection to the kidney and end blindly

hydroureter ( J:5191 )

• seen in newborns either unilaterally or bilaterally

reproductive system

ectopic ovary ( J:5191 )

♀ • usually located more anteriorly and may be found as far anterior as the anterior lateral border of the kidneys

♀ • anterior position in relation to the kidneys can be seen by E13

ectopic testis ( J:5191 )

♂ • usually located more dorsal and anterior; sometimes found in the normal location of the ovaries

♂ • anterior position in relation to the kidneys can be seen by E13

limbs/digits/tail

abnormal hindlimb morphology ( J:14980 )

• hindlimb abnormalities are similar to those in the forelimbs

abnormal limb bone morphology ( J:14980 )

abnormal carpal bone morphology ( J:14980 )

• at E14.5, the four elements of the carpus remain ill defined

• at birth the hamatum and triquetrum remain smaller, are located closer together, and in most are cases fused together

abnormal triquetrum morphology ( J:14980 )

fused carpal bones ( J:14980 )

• in most cases the hamatum and triquetrum are fused together

abnormal phalanx morphology ( J:14980 )

• all phalanges of the hind feet are reduced in size

abnormal tarsal bone morphology ( J:14980 )

• all tarsals are reduced in size

fused tarsal bones ( J:14980 )

• the naviculare and cuneiform II fuse with each other almost as soon as they can be identified

short humerus ( J:14980 )

• somewhat shorter at E13

• at E14 the caput humeri is smaller and ill defined

short radius ( J:14980 )

• somewhat shorter at E13

short ulna ( J:14980 )

• somewhat shorter at E13

abnormal femur morphology ( J:14980 )

• reduced condyles at birth

abnormal fibula morphology ( J:14980 )

• reduced proximal end at birth

abnormal tibia morphology ( J:14980 )

• reduced proximal end at birth

abnormal patella morphology ( J:14980 )

• reduced at birth

abnormal metacarpal bone morphology ( J:14980 )

• at E13 chondrification of the metacarpals is absent

• at E14 chondrification is delayed

abnormal metatarsal bone morphology ( J:14980 )

• reduced in size

absent sesamoid bone of gastrocnemius ( J:14980 )

• at birth both fabellae are absent

endocrine/exocrine glands

abnormal pituitary gland development ( J:75733 )

• at E12.66 the pituitary is still broadly in contact with the epithelium of the roof of the mouth

• at E14.33, the pituitary is still connected to the epithelium of the pharynx by a thick stalk

• at E16.33 the dorsoventral diameter is increased while the transverse diameter is reduced, overall the pituitary appears bulkier but has a looser structure with more blood vessels

abnormal pituitary diverticulum morphology ( J:5191 )

• at E10, the pouch is wider, shallower, and less curved in its contact with the infundibulum

• at E11, the pouch remains slightly open to the pharynx and the stalk is more broadly attached to the epithelium

• at E12, the stalk is more broadly in contact with the pharyngeal epithelium

• the stalks connection to the pharynx is still retained at E16

ectopic ovary ( J:5191 )

♀ • usually located more anteriorly and may be found as far anterior as the anterior lateral border of the kidneys

♀ • anterior position in relation to the kidneys can be seen by E13

ectopic testis ( J:5191 )

♂ • usually located more dorsal and anterior; sometimes found in the normal location of the ovaries

♂ • anterior position in relation to the kidneys can be seen by E13

cardiovascular system

abnormal kidney arterial blood vessel morphology ( J:5191 )

• abnormal arrangement of the renal arteries at P0

abnormal kidney venous blood vessel morphology ( J:5191 )

• abnormal arrangement of the renal veins at P0

intracranial hemorrhage ( J:5191 , J:75733 )

• grossly enlarged hydrocephalic ventricles are filled with hemorrhagic fluid (J:75733)

• hemorrhages become increasingly numerous and large from E16 onwards (J:75733)

• most hemorrhages occur near the midline (J:75733)

digestive/alimentary system

absent epiglottis ( J:14980 )

• absent at birth

integument

abnormal vibrissa number ( J:75733 )

• the post-orbital follicle is often missing either unilaterally or more often bilaterally

• the post-oral follicle is often duplicated or occasionally triplicated either unilaterally or more often bilaterally

• duplication of the post-oral follicle is the result of failure of the 2 or 3 primary follicles to fuse to form a single tubercle

growth/size/body

abnormal nasal capsule morphology ( J:75733 )

• at E12.66 the future cartilaginous septum of the nose is under developed with the posterior spur discernable but not anywhere near the pituitary region

short snout ( J:75733 )

• pug-like appearance of the face develops by about E13.5

enlarged kidney ( J:5191 )

• at E14 or later, kidneys may appear larger

Genotype
MGI:3811487

ht4

• Allelic Composition: Foxc1^ch/Foxc1⁺
• Genetic Background: CHMU/Le

vision/eye

vision/eye phenotype ( J:61775 )

N • despite these abnormalities intraocular pressure is rarely increased

abnormal anterior eye segment morphology ( J:61775 )

• 48 of 51 had clinically detectable abnormalities with 40 mice having bilateral abnormalities

corneal vascularization ( J:61775 )

• present in some older mice

abnormal iridocorneal angle ( J:61775 )

• most eyes contain morphologically normal and abnormal regions of the iridocorneal angle

• abnormalities include large blood vessels and iris strands

abnormal canal of Schlemm morphology ( J:61775 )

• small or absent

absent Schlemm's canal ( J:61775 )

• small or absent

abnormal trabecular meshwork morphology ( J:61775 )

• areas may be hypoplastic or absent

• in some places the trabecular meshwork appears compressed

• some areas where the trabecular meshwork is absent contain cells that resemble mesenchymal precursor cells

abnormal ciliary process morphology ( J:61775 )

• short and thin ciliary processes in some mice

ciliary body hypoplasia ( J:61775 )

• some eyes have a focally hypoplastic ciliary body with short and thin ciliary processes

mydriasis ( J:61775 )

• some have very large pupils resembling the phenotype associated with aniridia

anterior iris synechia ( J:61775 )

• tend to be more severe than in Foxc1^tm1Blh heterozygotes on a C57BL/6J containing background

cataract ( J:61775 )

• seen in about 25% of mice and the incidence increase with age

cardiovascular system

corneal vascularization ( J:61775 )

• present in some older mice

Genotype
MGI:3811565

ht5

• Allelic Composition: Foxc1^ch/Foxc1⁺
• Genetic Background: involves: C57BL/6 * CHMU/Le

renal/urinary system

duplex kidney ( J:60834 )

• seen in 1 of 15 mice

bifid ureter ( J:60834 )

• seen in 1 of 15 mice

Genotype
MGI:3813455

ht6

• Allelic Composition: Foxc1^ch/Foxc1⁺
• Genetic Background: involves: CBA * STOCK Tyr^c f

nervous system

nervous system phenotype ( J:5191 )

N • unlike homozygotes, no cases of hydrocephalus are seen

renal/urinary system

abnormal renal/urinary system morphology ( J:5191 )

• at 4 weeks of age about 1/6 of mice have urogenital abnormalities

abnormal kidney vasculature morphology ( J:5191 )

• abnormal arrangement of the renal arteries and veins may be seen at P0 but with a lower incidence compared to homozygotes

abnormal right renal artery morphology ( J:5191 )

• at 4 weeks of age about 50% of mice have an abnormal right renal artery

hydronephrosis ( J:5191 )

• incidence is less than that in homozygotes

hydroureter ( J:5191 )

• incidence is less than that in homozygotes

reproductive system

abnormal reproductive system morphology ( J:5191 )

• at 4 weeks of age about 1/6 of mice have urogenital abnormalities

ectopic ovary ( J:5191 )

♀ • may be located more anteriorly than in controls

♀ • this occurs with a lower incidence compared to homozygotes

ectopic testis ( J:5191 )

♂ • may be located more anteriorly than in controls

♂ • this occurs with a lower incidence compared to homozygotes

skeleton

abnormal foramen magnum morphology ( J:5191 )

• the border of the foramen magnum at the suture between the supraoccipital and exoccipital is slightly concave rather than straight or slightly convex as in controls

abnormal thyroid cartilage morphology ( J:5191 )

• may have defects on the ventral side

abnormal sternum morphology ( J:5191 )

• in some mice at 4 weeks of age, the anterior and posterior halves of the sternum consist of separate bones

abnormal cervical atlas morphology ( J:5191 )

• the neural canal is wider and more rounded at its ventral border and the lateral vertebral foramen is often open dorsolaterally

craniofacial

abnormal foramen magnum morphology ( J:5191 )

• the border of the foramen magnum at the suture between the supraoccipital and exoccipital is slightly concave rather than straight or slightly convex as in controls

respiratory system

abnormal thyroid cartilage morphology ( J:5191 )

• may have defects on the ventral side

endocrine/exocrine glands

ectopic ovary ( J:5191 )

♀ • may be located more anteriorly than in controls

♀ • this occurs with a lower incidence compared to homozygotes

ectopic testis ( J:5191 )

♂ • may be located more anteriorly than in controls

♂ • this occurs with a lower incidence compared to homozygotes

cardiovascular system

abnormal kidney vasculature morphology ( J:5191 )

• abnormal arrangement of the renal arteries and veins may be seen at P0 but with a lower incidence compared to homozygotes

abnormal right renal artery morphology ( J:5191 )

• at 4 weeks of age about 50% of mice have an abnormal right renal artery