Phenotypes associated with this allele

• Allele Symbol: Gy
• Allele Name: gyro
• Allele ID: MGI:2180359
• Summary: 9 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gy/Gy	B6.Cg-Gy	MGI:5009029
hm2	Gy/Gy	involves: 101/H * C3H/HeH * C3H/HeSnJ * C57BL/6J	MGI:5009031
ht3	Gy/Gy^+	involves: 101/H * C3H/HeH	MGI:5008747
ht4	Gy/Gy^+	involves: C3H/Sn * C57BL/6Ei	MGI:3037666
ot5	Gy/Y	B6.Cg-Gy	MGI:5009028
ot6	Gy/Y	involves: 101/H * C3H/HeH	MGI:5008746
ot7	Gy/Y	involves: 101/H * C3H/HeH * C3H/HeSnJ * C57BL/6J	MGI:5009030
ot8	Gy/Y	involves: 101/H * C3H/HeH * C57BL/6J	MGI:5009006
ot9	Gy/Y	involves: C3H/Sn * C57BL/6Ei	MGI:3037661

Genotype
MGI:5009029

hm1

• Allelic Composition: Gy/Gy
• Genetic Background: B6.Cg-Gy

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

homeostasis/metabolism

decreased circulating phosphate level ( 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

Genotype
MGI:5009031

hm2

• Allelic Composition: Gy/Gy
• Genetic Background: involves: 101/H * C3H/HeH * C3H/HeSnJ * C57BL/6J

homeostasis/metabolism

decreased circulating phosphate level ( J:17152 )

♀

growth/size/body

decreased body weight ( 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

Genotype
MGI:5008747

ht3

• Allelic Composition: Gy/Gy⁺
• Genetic Background: involves: 101/H * C3H/HeH

behavior/neurological

circling ( J:8335 , J:64263 )

♀ • mild in some mice (J:8335)

♀ (J:64263)

hearing/vestibular/ear

deafness ( J:64263 )

♀

growth/size/body

decreased body weight ( J:8335 )

♀

homeostasis/metabolism

decreased circulating phosphate level ( J:8335 )

♀

limbs/digits/tail

short femur ( J:8335 )

♀

skeleton

short femur ( J:8335 )

♀

Genotype
MGI:3037666

ht4

• Allelic Composition: Gy/Gy⁺
• Genetic Background: involves: C3H/Sn * C57BL/6Ei

growth/size/body

abnormal postnatal growth/weight/body size ( J:88352 )

♀ • all females have a squared trunk

limbs/digits/tail

short hindlimb ( J:88352 )

♀ • shortened hind limbs are seen

short tail ( J:88352 )

♀

Genotype
MGI:5009028

ot5

• Allelic Composition: Gy/Y
• Genetic Background: B6.Cg-Gy

homeostasis/metabolism

decreased circulating phosphate level ( J:17152 )

♂

abnormal calcium ion homeostasis ( J:17152 )

♂ • mice exhibit increased calcium tissue content compared with wild-type mice

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

Genotype
MGI:5008746

ot6

• Allelic Composition: Gy/Y
• Genetic Background: involves: 101/H * C3H/HeH

mortality/aging

premature death ( J:8335 )

♂ • sudden

reproductive system

oligozoospermia ( J:8335 )

♂

decreased testis weight ( J:8335 )

♂

male infertility ( J:8335 )

♂

skeleton

abnormal tooth morphology ( J:8335 )

♂

abnormal long bone morphology ( J:8335 )

♂ • soft

abnormal fibula morphology ( J:8335 )

♂ • uneven thickness

decreased length of long bones ( J:8335 )

♂

increased diameter of long bones ( J:8335 )

♂

abnormal rib morphology ( J:8335 )

♂ • uneven thickness

splayed ribs ( J:8335 )

♂

abnormal osteoid morphology ( J:8335 )

♂ • osteoid seams are widened compared to in wild-type mice

osteomalacia ( J:8335 )

♂

hearing/vestibular/ear

abnormal ear morphology ( J:8335 )

♂ • mice exhibit abnormal vestibular sense organs compared with wild-type mice

abnormal organ of Corti morphology ( J:8335 )

♂

cochlear hair cell degeneration ( J:8335 )

♂

detached tectorial membrane ( J:8335 )

♂

abnormal semicircular canal morphology ( J:8335 )

♂ • stenotic

utricular degeneration ( J:8335 )

♂

vestibular saccular degeneration ( J:8335 )

♂

deafness ( J:64263 )

♂

behavior/neurological

absent pinna reflex ( J:8335 )

♂

impaired righting response ( J:8335 )

♂ • absent

head shaking ( J:8335 )

♂

hyperactivity ( J:8335 )

♂

circling ( J:8335 , J:64263 )

♂ (J:8335)

♂ (J:64263)

vision/eye

blepharitis ( J:8335 )

♂

abnormal eyelid morphology ( J:8335 )

♂

growth/size/body

abnormal head morphology ( J:8335 )

♂

abnormal tooth morphology ( J:8335 )

♂

decreased body size ( J:8335 )

♂ • at P1

decreased body weight ( J:8335 )

♂

homeostasis/metabolism

decreased circulating phosphate level ( J:8335 )

♂

increased circulating alkaline phosphatase level ( J:8335 )

♂

abnormal urine nucleotide level ( J:8335 )

♂ • urinary cAMP is increased compared to in wild-type mice

increased urine phosphate level ( J:8335 )

♂

immune system

blepharitis ( J:8335 )

♂

nervous system

cochlear hair cell degeneration ( J:8335 )

♂

abnormal cochlear nerve morphology ( J:8335 )

♂

renal/urinary system

abnormal urine nucleotide level ( J:8335 )

♂ • urinary cAMP is increased compared to in wild-type mice

increased urine phosphate level ( J:8335 )

♂

craniofacial

abnormal tooth morphology ( J:8335 )

♂

endocrine/exocrine glands

decreased testis weight ( J:8335 )

♂

limbs/digits/tail

abnormal fibula morphology ( J:8335 )

♂ • uneven thickness

cellular

oligozoospermia ( J:8335 )

♂

Genotype
MGI:5009030

ot7

• Allelic Composition: Gy/Y
• Genetic Background: involves: 101/H * C3H/HeH * C3H/HeSnJ * C57BL/6J

homeostasis/metabolism

decreased circulating phosphate level ( J:17152 )

♂

abnormal calcium ion homeostasis ( J:17152 )

♂ • mice exhibit increased calcium tissue content compared with wild-type mice

growth/size/body

decreased body weight ( 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

Genotype
MGI:5009006

ot8

• Allelic Composition: Gy/Y
• Genetic Background: involves: 101/H * C3H/HeH * C57BL/6J

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

abnormal cranial suture morphology ( J:1654 )

♂ • mice exhibit prominent bulges at the frontonasal suture and the premaxiallary-maxillary suture unlike in wild-type mice

decreased cranium height ( J:1654 )

♂

short frontal bone ( J:1654 )

♂

short mandible ( J:1654 )

♂

short premaxilla ( J:1654 )

♂

short nasal bone ( J:1654 )

♂

domed cranium ( 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

abnormal cranial suture morphology ( J:1654 )

♂ • mice exhibit prominent bulges at the frontonasal suture and the premaxiallary-maxillary suture unlike in wild-type mice

decreased cranium height ( J:1654 )

♂

short frontal bone ( J:1654 )

♂

short mandible ( J:1654 )

♂

short premaxilla ( J:1654 )

♂

short nasal bone ( J:1654 )

♂

domed cranium ( J:1654 )

♂

growth/size/body

short nasal bone ( J:1654 )

♂

respiratory system

short nasal bone ( J:1654 )

♂

Genotype
MGI:3037661

ot9

• Allelic Composition: Gy/Y
• Genetic Background: involves: C3H/Sn * C57BL/6Ei

adipose tissue

decreased total body fat amount ( J:88352 )

♂ • a significant increase in lean body mass is seen compared to control

growth/size/body

decreased body weight ( J:88352 )

♂ • all males have significantly lower body weights (~50% less than controls) and a squared trunk

♂ • male Gy mutants weigh significantly less than other Phex^Hyp male mutants (Phex^Hyp, Phex^Hyp-2J, Phex^Hyp-Duk)

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:88352 )

♂ • mean auditory brainstem response thresholds are significantly higher than controls

homeostasis/metabolism

decreased circulating calcium level ( J:88352 )

♂ • at 6 weeks of age serum Ca²⁺ are significantly decreased compared to controls

decreased circulating potassium level ( J:88352 )

♂ • at 6 weeks of age serum PO₄ levels are significantly lower than controls

limbs/digits/tail

short hindlimb ( J:88352 )

♂ • shortened hind limbs are seen

abnormal limb bone morphology ( J:88352 )

♂

short femur ( J:88352 )

♂

short fibula ( J:88352 )

♂ • the fibula is shortened and splayed

short tibia ( J:88352 )

♂ • the tibia is shortened and splayed

abnormal patella morphology ( J:88352 )

♂ • growth plates of the knee are thickened and irregular

short tail ( J:88352 )

♂

skeleton

abnormal limb bone morphology ( J:88352 )

♂

abnormal patella morphology ( J:88352 )

♂ • growth plates of the knee are thickened and irregular

disorganized long bone epiphyseal plate ( J:88352 )

♂ • disorganized femoral growth plates

decreased length of long bones ( J:88352 )

♂ • the long bones are shortened

short femur ( J:88352 )

♂

short fibula ( J:88352 )

♂ • the fibula is shortened and splayed

short tibia ( J:88352 )

♂ • the tibia is shortened and splayed

increased diameter of long bones ( J:88352 )

♂ • the long bones are thickened

decreased bone mineral density ( J:88352 )

♂ • between 6 and 40 weeks of age under-mineralized bone is present throughout the body

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked dominant hypophosphatemic rickets		DOID:0050445	OMIM:307800	J:38621 , J:88352