Mouse Genome Informatics
ht
    Dbf/Dbf+
involves: 101/H * C3H/HeH
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• reduced viability (J:14233)
• heterozygotes that develop hydroencephaly rapidly die (J:39106)
• fewer than expected heterozygotes at birth

limbs/digits/tail
• limbs are thicker dorsoventrally, this appears to be secondary to formation of extra digits
• limb mesenchyme is disorganized with a larger extracellular matrix volume compared to wild-type
• abnormally wide by E11.5 (J:39106)
• by late E10 limbs appear slightly enlarged along the anterior posterior axis; however, at E13 limb length appears normal (J:50164)
• abnormally broad at E12.5 (J:39106)
• the feet are abnormally broad and the soles appear swollen and abnormally smooth (J:39106)
• by E12 the hand and foot plates are greatly enlarged along the anterior posterior axis exclusively on the preaxial aspect of the limb (J:50164)
• digits are in a fan-shaped array
• all digits are the same length, lack anteroposterior polarity, and show greater separation than wild-type
• 1 in 4 digits are bifurcated and 1 in 8 mice have an interdigital digit
• fore feet have 6 to 9 toes and hind feet have 5 to 8 toes, mostly arranged in a single group although a few mice have toes arranged in 2 groups (J:39106)
• in some cases 2 or more toes have interdigital webbing (J:39106)
• by E13 condensing models for more than 5 digits are seen on the fore and hind limbs and at E14 interdigital webbing persists (J:50164)
• this webbing persists in some heterozygotes through E17 (J:50164)
• enlarged ventral footpad
• duplication of tarsal bones to the same extent as the increase in digit number
• at E15 the carpus and tarsus consist of 2 rows of indistinct, contiguous elements unlike in wild-type where these elements are discrete and readily identifiable
• deformities in the tibia and fibula result in dislocation of the ankle joint such that the ankle bone rather than the toes rest on the ground (J:39106)
• in some cases deformities in the radius and ulna result in dislocation of the wrist joint such that the wrist rests on the ground (J:39106)
• seen mainly in the hind feet in extreme cases heterozygotes walk on the outer border of the ankle (J:50164)
• a few adults also show a slight rotational defect in the forefeet (J:50164)
• in some cases the radius is bent
• in some cases the ulna is bent
• appear twisted
• the tibia and fibula fail to fuse
• bowed, probably the result of shortening of the tibia (J:50164)
• the tibia and fibula fail to fuse (J:39106)
• however, the radius and ulna and the rest of the cartilaginous skeleton are normal (J:50164)
• the tibia has separate proximal and distal sites of chondrogenesis that fuse by E15 but are poorly aligned (J:50164)
• the tibia curves helically around the longitudinal axis and the distal end makes an incomplete, medially situated articulation (J:50164)
• duplication of carpal bones to the same extent as the increase in digit number
• at E15 the carpus and tarsus consist of 2 rows of indistinct, contiguous elements unlike in wild-type where these elements are discrete and readily identifiable
• in most cases kinks are the result of soft tissue abnormalities although in a few mice bony kinks are also present (J:39106)

craniofacial
• at E13 the cranifacial region appears more bulbous than in wild-type mice
• wider than normal
• broader in the frontal region (J:39106)
• skull is broader and more bulbous (J:50164)
• a supernumerary element (wormian bone) is found in the anterior fontanelle
• a small gap between the frontal bones filled with an interfrontal bone is commonly seen
• broad snout

growth/size
• broad snout
• seen at E13
• weight is similar at birth but by 18 days of age heterozygotes weigh about 25% less than wild-type littermates

nervous system
• seen in some but not all heterozygotes (J:14233)
• some heterozygotes develop hydroencephaly at any age between 2-3 weeks and a few months (J:39106)
• at E10 a midline bulge is visible in the roof of the diencephalon

reproductive system
(J:14233)
(J:39106)
• some males have reduced sperm counts: however, this does not correlate with infertility (J:39106)
• mean sperm counts are about half of normal but sperm counts vary widely between individuals (J:39106)
• vaginal opening occurs at 7 - 8 weeks of age (J:39106)
• no normal cycles are detected (J:39106)
• females are usually fertile but have smaller litters when crossed to wild-type mice
• some, but not all, heterozygotes are sterile
• only 18 of 46 females became pregnant in crosses with heterozygous males previously determined to be fertile (J:39106)
• 78 of 152 males are sterile and 29 of the remaining 74 are only fertile for a short time (J:39106)

behavior/neurological
• sometime mice display a hunched posture without any underlying bony abnormalities of the vertebra or ribs

vision/eye
• eyes are generally half-closed

skeleton
• occasionally the cervical-cranial angle is reduced
• wider than normal
• broader in the frontal region (J:39106)
• skull is broader and more bulbous (J:50164)
• a supernumerary element (wormian bone) is found in the anterior fontanelle
• a small gap between the frontal bones filled with an interfrontal bone is commonly seen
• duplication of tarsal bones to the same extent as the increase in digit number
• at E15 the carpus and tarsus consist of 2 rows of indistinct, contiguous elements unlike in wild-type where these elements are discrete and readily identifiable
• in some cases the radius is bent
• in some cases the ulna is bent
• the tibia and fibula fail to fuse
• bowed, probably the result of shortening of the tibia (J:50164)
• the tibia and fibula fail to fuse (J:39106)
• the tibia has separate proximal and distal sites of chondrogenesis that fuse by E15 but are poorly aligned (J:50164)
• the tibia curves helically around the longitudinal axis and the distal end makes an incomplete, medially situated articulation (J:50164)
• however, the radius and ulna and the rest of the cartilaginous skeleton are normal (J:50164)
• duplication of carpal bones to the same extent as the increase in digit number
• at E15 the carpus and tarsus consist of 2 rows of indistinct, contiguous elements unlike in wild-type where these elements are discrete and readily identifiable
• long bone are shortened and reduced (J:14233)
• long bones are shortened (J:39106)
• occasionally a hole is seen in the scapula (J:39106)
• at E17, a hole is sometimes seen in the scapula; however, no hole is seen in mice older then E17 (J:50164)
• occasionally the ribcage is slightly compressed
• occasionally 7 rather than 6 lumber vertebrae are present

endocrine/exocrine glands
(J:14233)
(J:39106)

embryogenesis
• seen at E13
• abnormally wide by E11.5 (J:39106)
• by late E10 limbs appear slightly enlarged along the anterior posterior axis; however, at E13 limb length appears normal (J:50164)

Mouse Models of Human Disease
OMIM IDRef(s)
Clubfoot, Congenital, with or without Deficiency of Long Bones and/or Mirror-Image Polydactyly; CCF 119800 J:39106