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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
PhexHyp-Duk
hypophosphatemia, Duke
MGI:2388890
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
PhexHyp-Duk/Phex+ involves: BALB/cAnBomUrd MGI:3037643
ot2
PhexHyp-Duk/Y B6.C-PhexHyp-Duk/J MGI:3709845
ot3
PhexHyp-Duk/Y involves: BALB/cAnBomUrd MGI:3037642


Genotype
MGI:3037643
ht1
Allelic
Composition
PhexHyp-Duk/Phex+
Genetic
Background
involves: BALB/cAnBomUrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
PhexHyp-Duk mutation (3 available); any Phex mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• some but not all females showed circling behavior (J:88352)
• some but not all females showed circling behavior (J:88352)

growth/size/body
• some but not all females are mildly growth retarded in overall body size with a squared trunk (J:88352)
• unlike PhexHyp-2J it is not easy to distinguish between heterozygous females and wild-type females (J:88352)
• some but not all females are mildly growth retarded in overall body size with a squared trunk (J:88352)
• unlike PhexHyp-2J it is not easy to distinguish between heterozygous females and wild-type females (J:88352)

limbs/digits/tail
• some but not all females have shortened hind limbs (J:88352)
• some but not all females have shortened hind limbs (J:88352)
• some but not all females have a shortened tail (J:88352)
• some but not all females have a shortened tail (J:88352)

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




Genotype
MGI:3709845
ot2
Allelic
Composition
PhexHyp-Duk/Y
Genetic
Background
B6.C-PhexHyp-Duk/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
PhexHyp-Duk mutation (3 available); any Phex mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

PhexHyp-Duk/Y with littermate +/Y control

behavior/neurological
N
• Background Sensitivity: startle response is normal and no head-bobbing or circling are seen (J:132678)
• Background Sensitivity: startle response is normal and no head-bobbing or circling are seen (J:132678)

growth/size/body
(J:132678)
(J:132678)

craniofacial
• slightly abnormal shape (J:132678)
• slightly abnormal shape (J:132678)

skeleton
• slightly abnormal shape (J:132678)
• slightly abnormal shape (J:132678)

hearing/vestibular/ear
N
• Background Sensitivity: startle response is normal and no head-bobbing or circling are seen (J:132678)
• Background Sensitivity: ABR recordings at 21 to 50 days of age are normal, cochlear ducts at 4 months of age do not show endolymphatic hydrops or spiral ganglion cell degeneration (J:132678)
• Background Sensitivity: startle response is normal and no head-bobbing or circling are seen (J:132678)
• Background Sensitivity: ABR recordings at 21 to 50 days of age are normal, cochlear ducts at 4 months of age do not show endolymphatic hydrops or spiral ganglion cell degeneration (J:132678)
• by one month of age the otic capsule is markedly thickened and surrounded by non-mineralized bone, similar to that seen on the BALB/cUrd background (J:132678)
• by one month of age the otic capsule is markedly thickened and surrounded by non-mineralized bone, similar to that seen on the BALB/cUrd background (J:132678)
• Background Sensitivity: although on the C67BL/6J background the ABR threshold is normal in younger mice, at over 2 months of age some unilateral increase in threshold of 10-15 dB SPL above normal is found so the hearing loss is much less severe than on the BALB/cUrd background (J:132678)
• Background Sensitivity: although on the C67BL/6J background the ABR threshold is normal in younger mice, at over 2 months of age some unilateral increase in threshold of 10-15 dB SPL above normal is found so the hearing loss is much less severe than on the BALB/cUrd background (J:132678)




Genotype
MGI:3037642
ot3
Allelic
Composition
PhexHyp-Duk/Y
Genetic
Background
involves: BALB/cAnBomUrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
PhexHyp-Duk mutation (3 available); any Phex mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
adipose tissue
• a significant increase in lean body mass is seen compared to controls (J:88352)
• a significant increase in lean body mass is seen compared to controls (J:88352)

behavior/neurological
• in some hemizygotes (J:132678)
• in some hemizygotes (J:132678)
• in some hemizygotes (J:132678)
• in some hemizygotes (J:132678)
• 11 out of 20 males showed circling behaviour (J:88352)
• 11 out of 20 males showed circling behaviour (J:88352)

craniofacial
• at 12 weeks the skull is significantly shorter in length with a shorter nose length and lower areal bone mineral density compared to controls (J:88352)
• skull width and skull to nose length ratio are unaffected (J:88352)
• at 12 weeks the skull is significantly shorter in length with a shorter nose length and lower areal bone mineral density compared to controls (J:88352)
• skull width and skull to nose length ratio are unaffected (J:88352)
• the temporal bone surrounding the cochlea is thickened with areas of non-mineralization (J:88352)
• the temporal bone surrounding the cochlea is thickened with areas of non-mineralization (J:88352)
• the length of the upper jaw is reduced (J:88352)
• the length of the upper jaw is reduced (J:88352)

growth/size/body
• a significant increase in lean body mass is seen compared to controls (J:88352)
• a significant increase in lean body mass is seen compared to controls (J:88352)
• all males have significantly lower body weights, ~25% less than controls (J:88352)
• all males have significantly lower body weights, ~25% less than controls (J:88352)
• all males are mildly growth retarded in overall body size with a squared trunk (J:88352)
• all males are mildly growth retarded in overall body size with a squared trunk (J:88352)

hearing/vestibular/ear
N
• at 40 days of age the cells of the spiral ganglion and the organ of Corti remain intact (J:132678)
• at 40 days of age the cells of the spiral ganglion and the organ of Corti remain intact (J:132678)
• endolymph volume appears larger in the cochleas, resulting in increased scala media, decreased scala vestibule and displacement of Reissner's membrane which separates these (J:88352)
• endolymph volume appears larger in the cochleas, resulting in increased scala media, decreased scala vestibule and displacement of Reissner's membrane which separates these (J:88352)
(J:132678)
(J:132678)
• degeneration is obvious in the apical turn of the cochlea but decreases towards the base (J:88352)
• degeneration is obvious in the apical turn of the cochlea but decreases towards the base (J:88352)
• a precipitate is found in the scala tympani of the cochlea (J:88352)
• a precipitate is found in the scala tympani of the cochlea (J:88352)
• in some instances at 90 days of age the saccule is ruptured apparently due to hydrops (J:132678)
• in some instances at 90 days of age the saccule is ruptured apparently due to hydrops (J:132678)
• the otic bony capsule of hemizygotes is thickened and surrounded by non-mineralized bone at around 25 days of age (J:132678)
• the otic bony capsule of hemizygotes is thickened and surrounded by non-mineralized bone at around 25 days of age (J:132678)
• mean auditory brainstem response thresholds are significantly higher than controls (J:88352)
• mean auditory brainstem response thresholds are also significantly higher than other Phex male mutants (PhexHyp, PhexHyp-2J, Gy) (J:88352)
• this difference from other Phex mutants but not from wild-type controls disappeared when PhexHyp-Duk was outcrossed to BALB/cByJ (J:88352)
• mean auditory brainstem response thresholds are significantly higher than controls (J:88352)
• mean auditory brainstem response thresholds are also significantly higher than other Phex male mutants (PhexHyp, PhexHyp-2J, Gy) (J:88352)
• this difference from other Phex mutants but not from wild-type controls disappeared when PhexHyp-Duk was outcrossed to BALB/cByJ (J:88352)
(J:132678)
(J:132678)
• ABR assessment shows that at 21 days of age most hemizygotes have mild to moderate unilateral hearing loss, by 25 days of age the majority have bilateral hearing loss exceeding that of controls by 30 dB, and hearing loss is progressive with onset of inner ear dysfunction centered between 25 and 30 days of age (J:132678)
• ABR assessment shows that at 21 days of age most hemizygotes have mild to moderate unilateral hearing loss, by 25 days of age the majority have bilateral hearing loss exceeding that of controls by 30 dB, and hearing loss is progressive with onset of inner ear dysfunction centered between 25 and 30 days of age (J:132678)
(J:132678)
(J:132678)
• some hemizygotes show mild apical hydrops at 21 to 25 days of age, but this is not accompanied by hair cell loss and the endolymphatic duct appears normal along its entire course with no occlusion or dilation (J:132678)
• by 40 days of age most hemizygotes have severe endolymphatic hydrops with distension of Reissner's membrane (J:132678)
• by 90 days of age severe hydrops in all parts of the labyrinth is found and Reissner's membrane is displaced (J:132678)
• some hemizygotes show mild apical hydrops at 21 to 25 days of age, but this is not accompanied by hair cell loss and the endolymphatic duct appears normal along its entire course with no occlusion or dilation (J:132678)
• by 40 days of age most hemizygotes have severe endolymphatic hydrops with distension of Reissner's membrane (J:132678)
• by 90 days of age severe hydrops in all parts of the labyrinth is found and Reissner's membrane is displaced (J:132678)

homeostasis/metabolism
• at 6 weeks of age serum Ca2+ are significantly decreased compared to controls (J:88352)
• 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)
• 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)
• shortened hind limbs are seen (J:88352)
(J:88352)
(J:88352)
• the fibula is shortened and splayed (J:88352)
• the fibula is shortened and splayed (J:88352)
• the tibia 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)
• growth plates of the knee are thickened and irregular (J:88352)
(J:88352)
(J:88352)

skeleton
• at 12 weeks the skull is significantly shorter in length with a shorter nose length and lower areal bone mineral density compared to controls (J:88352)
• skull width and skull to nose length ratio are unaffected (J:88352)
• at 12 weeks the skull is significantly shorter in length with a shorter nose length and lower areal bone mineral density compared to controls (J:88352)
• skull width and skull to nose length ratio are unaffected (J:88352)
• the temporal bone surrounding the cochlea is thickened with areas of non-mineralization (J:88352)
• the temporal bone surrounding the cochlea is thickened with areas of non-mineralization (J:88352)
• the length of the upper jaw is reduced (J:88352)
• the length of the upper jaw is reduced (J:88352)
• growth plates of the knee are thickened and irregular (J:88352)
• growth plates of the knee are thickened and irregular (J:88352)
• disorganized femoral growth plates (J:88352)
• disorganized femoral growth plates (J:88352)
• the long bones are shortened (J:88352)
• the long bones are shortened (J:88352)
(J:88352)
(J:88352)
• the fibula is shortened and splayed (J:88352)
• the fibula is shortened and splayed (J:88352)
• the tibia is shortened and splayed (J:88352)
• the tibia is shortened and splayed (J:88352)
• the long bones are thickened (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)
• between 6 and 40 weeks of age under-mineralized bone is present throughout the body (J:88352)

nervous system
• degeneration is obvious in the apical turn of the cochlea but decreases towards the base (J:88352)
• degeneration is obvious in the apical turn of the cochlea but decreases towards the base (J:88352)
• at 90 days of age spiral ganglion degeneration in most turns of the cochlea is found, although the hair cells are largely preserved (J:132678)
• at 90 days of age spiral ganglion degeneration in most turns of the cochlea is found, although the hair cells are largely preserved (J:132678)

immune system
• some hemizygotes show mild apical hydrops at 21 to 25 days of age, but this is not accompanied by hair cell loss and the endolymphatic duct appears normal along its entire course with no occlusion or dilation (J:132678)
• by 40 days of age most hemizygotes have severe endolymphatic hydrops with distension of Reissner's membrane (J:132678)
• by 90 days of age severe hydrops in all parts of the labyrinth is found and Reissner's membrane is displaced (J:132678)
• some hemizygotes show mild apical hydrops at 21 to 25 days of age, but this is not accompanied by hair cell loss and the endolymphatic duct appears normal along its entire course with no occlusion or dilation (J:132678)
• by 40 days of age most hemizygotes have severe endolymphatic hydrops with distension of Reissner's membrane (J:132678)
• by 90 days of age severe hydrops in all parts of the labyrinth is found and Reissner's membrane is displaced (J:132678)





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory