Mouse Genome Informatics
hm1
     Gy/Gy
B6.Cg-Gy
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
homeostasis/metabolism

digestive/alimentary system
decreased intestinal calcium absorption ( J:17152 )
• at 4 weeks, mice exhibit reduced calcium absorption in the duodenum compared with wild-type mice (J:17152)


Mouse Genome Informatics
hm2
     Gy/Gy
involves: 101/H * C3H/HeH * C3H/HeSnJ * C57BL/6J
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
homeostasis/metabolism

growth/size

digestive/alimentary system
decreased intestinal calcium absorption ( J:17152 )
• at 4 weeks, mice exhibit reduced calcium absorption in the duodenum compared with wild-type mice (J:17152)


Mouse Genome Informatics
ht3
     Gy/Gy+
involves: 101/H * C3H/HeH
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
behavior/neurological
circling ( J:8335 , J:64263 )
• mild in some mice (J:8335)
(J:64263)

hearing/vestibular/ear
deafness ( J:64263 )
(J:64263)

growth/size

homeostasis/metabolism

limbs/digits/tail
short femur ( J:8335 )
(J:8335)

skeleton
short femur ( J:8335 )
(J:8335)


Mouse Genome Informatics
ht4
     Gy/Gy+
involves: C3H/Sn * C57BL/6Ei
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
growth/size
abnormal postnatal growth/weight/body size ( J:88352 )
• all females have a squared trunk (J:88352)

limbs/digits/tail
abnormal hindlimb morphology ( J:88352 )
• shortened hind limbs are seen (J:88352)
short tail ( J:88352 )
(J:88352)


Mouse Genome Informatics
ot5
     Gy/Y
B6.Cg-Gy
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
homeostasis/metabolism
abnormal calcium ion homeostasis ( J:17152 )
• mice exhibit increased calcium tissue content compared with wild-type mice (J:17152)

digestive/alimentary system
decreased intestinal calcium absorption ( J:17152 )
• at 4 weeks, mice exhibit reduced calcium absorption in the duodenum compared with wild-type mice (J:17152)


Mouse Genome Informatics
ot6
     Gy/Y
involves: 101/H * C3H/HeH
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
mortality/aging
premature death ( J:8335 )
• sudden (J:8335)

reproductive system
oligozoospermia ( J:8335 )
(J:8335)

skeleton
abnormal long bone morphology ( J:8335 )
• soft (J:8335)
abnormal fibula morphology ( J:8335 )
• uneven thickness (J:8335)
abnormal rib morphology ( J:8335 )
• uneven thickness (J:8335)
splayed ribs ( J:8335 )
(J:8335)
abnormal osteoid morphology ( J:8335 )
• osteoid seams are widened compared to in wild-type mice (J:8335)
osteomalacia ( J:8335 )
(J:8335)

hearing/vestibular/ear
abnormal ear morphology ( J:8335 )
• mice exhibit abnormal vestibular sense organs compared with wild-type mice (J:8335)
deafness ( J:64263 )
(J:64263)

behavior/neurological
impaired righting response ( J:8335 )
• absent (J:8335)
hyperactivity ( J:8335 )
(J:8335)
head shaking ( J:8335 )
(J:8335)
circling ( J:8335 , J:64263 )
(J:8335)
(J:64263)

vision/eye
blepharitis ( J:8335 )
(J:8335)

growth/size
decreased body size ( J:8335 )
• at P1 (J:8335)

homeostasis/metabolism
abnormal urine nucleotide level ( J:8335 )
• urinary cAMP is increased compared to in wild-type mice (J:8335)

immune system
blepharitis ( J:8335 )
(J:8335)

nervous system

renal/urinary system
abnormal urine nucleotide level ( J:8335 )
• urinary cAMP is increased compared to in wild-type mice (J:8335)

craniofacial

endocrine/exocrine glands

limbs/digits/tail
abnormal fibula morphology ( J:8335 )
• uneven thickness (J:8335)


Mouse Genome Informatics
ot7
     Gy/Y
involves: 101/H * C3H/HeH * C3H/HeSnJ * C57BL/6J
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
homeostasis/metabolism
abnormal calcium ion homeostasis ( J:17152 )
• mice exhibit increased calcium tissue content compared with wild-type mice (J:17152)

growth/size

digestive/alimentary system
decreased intestinal calcium absorption ( J:17152 )
• at 4 weeks, mice exhibit reduced calcium absorption in the duodenum compared with wild-type mice (J:17152)


Mouse Genome Informatics
ot8
     Gy/Y
involves: 101/H * C3H/HeH * C57BL/6J
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
craniofacial
abnormal cranium morphology ( J:1654 )
• mice exhibit smaller cranial length, neurocranial length, and length from anterior to posterior palatine foramen compared with wild-type mice (J:1654)
abnormal cranial suture morphology ( J:1654 )
• mice exhibit prominent bulges at the frontonasal suture and the premaxiallary-maxillary suture unlike in wild-type mice (J:1654)
short mandible ( J:1654 )
(J:1654)
domed cranium ( J:1654 )
(J:1654)

skeleton
abnormal cranium morphology ( J:1654 )
• mice exhibit smaller cranial length, neurocranial length, and length from anterior to posterior palatine foramen compared with wild-type mice (J:1654)
abnormal cranial suture morphology ( J:1654 )
• mice exhibit prominent bulges at the frontonasal suture and the premaxiallary-maxillary suture unlike in wild-type mice (J:1654)
short mandible ( J:1654 )
(J:1654)
domed cranium ( J:1654 )
(J:1654)


Mouse Genome Informatics
ot9
     Gy/Y
involves: C3H/Sn * C57BL/6Ei
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
adipose tissue
decreased total body fat amount ( J:88352 )
• a significant increase in lean body mass is seen compared to control (J:88352)

growth/size
decreased body weight ( J:88352 )
• all males have significantly lower body weights (~50% less than controls) and a squared trunk (J:88352)
• male Gy mutants weigh significantly less than other PhexHyp male mutants (PhexHyp, PhexHyp-2J, PhexHyp-Duk) (J:88352)

hearing/vestibular/ear
increased or absent threshold for auditory brainstem response ( J:88352 )
• mean auditory brainstem response thresholds are significantly higher than controls (J:88352)

homeostasis/metabolism
decreased circulating calcium level ( J:88352 )
• at 6 weeks of age serum Ca2+ are significantly decreased compared to controls (J:88352)
decreased circulating potassium level ( J:88352 )
• at 6 weeks of age serum PO4 levels are significantly lower than controls (J:88352)

limbs/digits/tail
abnormal hindlimb morphology ( J:88352 )
• shortened hind limbs are seen (J:88352)
short femur ( J:88352 )
(J:88352)
short fibula ( J:88352 )
• the fibula is shortened and splayed (J:88352)
short tibia ( J:88352 )
• the tibia is shortened and splayed (J:88352)
abnormal patella morphology ( J:88352 )
• growth plates of the knee are thickened and irregular (J:88352)
short tail ( J:88352 )
(J:88352)

skeleton
short femur ( J:88352 )
(J:88352)
short fibula ( J:88352 )
• the fibula is shortened and splayed (J:88352)
short tibia ( J:88352 )
• the tibia is shortened and splayed (J:88352)
abnormal patella morphology ( J:88352 )
• growth plates of the knee are thickened and irregular (J:88352)
disorganized long bone epiphyseal plate ( J:88352 )
• disorganized femoral growth plates (J:88352)
decreased length of long bones ( J:88352 )
• the long bones are shortened (J:88352)
increased diameter of long bones ( J:88352 )
• the long bones are thickened (J:88352)
decreased bone mineral density ( J:88352 )
• between 6 and 40 weeks of age under-mineralized bone is present throughout the body (J:88352)

Mouse Models of Human Disease
 OMIM IDRef(s)
Hypophosphatemic Rickets, X-Linked Dominant; XLHR 307800 J:38621 , J:88352