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

digestive/alimentary system
• 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 EuPh Europhenome
N normal phenotype
homeostasis/metabolism

growth/size

digestive/alimentary system
• 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 EuPh Europhenome
N normal phenotype
behavior/neurological
• mild in some mice (J:8335)
(J:64263)

hearing/vestibular/ear
(J:64263)

growth/size

homeostasis/metabolism

limbs/digits/tail
(J:8335)

skeleton
(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 EuPh Europhenome
N normal phenotype
growth/size
• all females have a squared trunk (J:88352)

limbs/digits/tail
• shortened hind limbs are seen (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 EuPh Europhenome
N normal phenotype
homeostasis/metabolism
• mice exhibit increased calcium tissue content compared with wild-type mice (J:17152)

digestive/alimentary system
• 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 EuPh Europhenome
N normal phenotype
mortality/aging
• sudden (J:8335)

reproductive system
(J:8335)

skeleton
• soft (J:8335)
• uneven thickness (J:8335)
• uneven thickness (J:8335)
(J:8335)
• osteoid seams are widened compared to in wild-type mice (J:8335)
(J:8335)

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

behavior/neurological
• absent (J:8335)
(J:8335)
(J:8335)
(J:8335)
(J:64263)

vision/eye
(J:8335)

growth/size
• at P1 (J:8335)

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

immune system
(J:8335)

nervous system

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

craniofacial

endocrine/exocrine glands

limbs/digits/tail
• 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 EuPh Europhenome
N normal phenotype
homeostasis/metabolism
• mice exhibit increased calcium tissue content compared with wild-type mice (J:17152)

growth/size

digestive/alimentary system
• 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 EuPh Europhenome
N normal phenotype
craniofacial
• mice exhibit smaller cranial length, neurocranial length, and length from anterior to posterior palatine foramen compared with wild-type mice (J:1654)
• mice exhibit prominent bulges at the frontonasal suture and the premaxiallary-maxillary suture unlike in wild-type mice (J:1654)
(J:1654)
(J:1654)

skeleton
• mice exhibit smaller cranial length, neurocranial length, and length from anterior to posterior palatine foramen compared with wild-type mice (J:1654)
• mice exhibit prominent bulges at the frontonasal suture and the premaxiallary-maxillary suture unlike in wild-type mice (J:1654)
(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 EuPh Europhenome
N normal phenotype
adipose tissue
• a significant increase in lean body mass is seen compared to control (J:88352)

growth/size
• a significant increase in lean body mass is seen compared to control (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
• mean auditory brainstem response thresholds are significantly higher than controls (J:88352)

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

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

skeleton
• growth plates of the knee are thickened and irregular (J:88352)
• disorganized femoral growth plates (J:88352)
• the long bones are shortened (J:88352)
(J:88352)
• the fibula is shortened and splayed (J:88352)
• the tibia is shortened and splayed (J:88352)
• the long bones are thickened (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