Phenotypes associated with this allele

• Allele Symbol: Scube3^m1Mhda
• Allele Name: mutation 1, Martin Hrabe de Angelis
• Allele ID: MGI:5817460
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Scube3^m1Mhda/Scube3^m1Mhda	C3HeB/FeJ-Scube3^m1Mhda	MGI:5817790

Genotype
MGI:5817790

hm1

• Allelic Composition: Scube3^m1Mhda/Scube3^m1Mhda
• Genetic Background: C3HeB/FeJ-Scube3^m1Mhda

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

adipose tissue

decreased body fat mass ( J:237904 )

behavior/neurological

increased fluid intake ( J:237904 )

• water uptake in relation to body mass is increased

abnormal food intake ( J:237904 )

• food consumption in relation to body mass is increased

abnormal anxiety-related response ( J:237904 )

• mice spend less time in the center, enter into the center less often, travel less distance within this zone, and show an increased latency to enter the center

• in a modified hole-board test, maximum and angular velocity are decreased and the latency to engage in risk assessment

decreased grip strength ( J:237904 )

abnormal posture ( J:237904 )

• abnormal posture when hung by the tail

decreased vertical activity ( J:237904 )

decreased locomotor activity ( J:237904 )

• in the open field, mice show decreased locomotor and exploratory activity, showing reduction in total distance traveled

• reduction in locomotor activity, particularly in females

cardiovascular system

abnormal interventricular septum morphology ( J:237904 )

♂ • mild decrease in interventricular septum width in males

decreased heart left ventricle weight ( J:237904 )

♂ • decrease in left ventricular mass in males

decreased heart left ventricle posterior wall thickness ( J:237904 )

♂ • decrease in left ventricular posterior wall thickness in males

prolonged QRS complex duration ( J:237904 )

♂ • prolonged QRS interval durations in males

♂ • however, no alternations in heart performance or conduction are seen

craniofacial

abnormal temporal bone morphology ( J:237904 )

• part of the temporal bone exhibits an irregular shape

abnormal middle ear ossicle morphology ( J:237904 )

• ossicles of the middle ear have an altered shape

abnormal malleus morphology ( J:237904 )

• the body and head of the malleus are decreased in size

abnormal malleus head morphology ( J:237904 )

• decrease in size of the malleus head

small middle ear ossicles ( J:237904 )

• ossicles of the middle ear are decreased in size

small incus ( J:237904 )

• incus is smaller

growth/size/body

abnormal body composition ( J:237904 )

• reduction in body mass

decreased body fat mass ( J:237904 )

decreased lean body mass ( J:237904 )

decreased body size ( J:237904 )

hearing/vestibular/ear

abnormal inner ear morphology ( J:237904 )

• inner ears are smaller

abnormal middle ear morphology ( J:237904 )

• middle ears are smaller

• the middle ear cavity, the bulla, part of the temporal bone exhibit an irregular shape

abnormal middle ear ossicle morphology ( J:237904 )

• ossicles of the middle ear have an altered shape

abnormal malleus morphology ( J:237904 )

• the body and head of the malleus are decreased in size

abnormal malleus head morphology ( J:237904 )

• decrease in size of the malleus head

small middle ear ossicles ( J:237904 )

• ossicles of the middle ear are decreased in size

small incus ( J:237904 )

• incus is smaller

increased or absent threshold for auditory brainstem response ( J:237904 )

• auditory brainstem response thresholds are increased, with females more severely affected

conductive hearing loss ( J:237904 )

homeostasis/metabolism

increased circulating creatinine level ( J:237904 )

• increase in plasma creatinine levels

• however, 24 hour creatinine clearance adjusted to body weight is normal

decreased urine creatinine level ( J:237904 )

• slightly lower

increased blood urea nitrogen level ( J:237904 )

• increase in plasma urea levels

increased blood uric acid level ( J:237904 )

decreased circulating glucose level ( J:237904 )

decreased circulating cholesterol level ( J:237904 )

♂ • cholesterol levels are decreased only in males

decreased circulating free fatty acids level ( J:237904 )

decreased circulating glycerol level ( J:237904 )

decreased circulating triglyceride level ( J:237904 )

increased circulating calcium level ( J:237904 )

♀ • calcium levels are elevated at 17 weeks of age in females but not in older mice

decreased circulating phosphate level ( J:237904 )

♂ • inorganic phosphate levels are globally decreased in males

increased circulating potassium level ( J:237904 )

decreased circulating serum albumin level ( J:237904 )

♂ • albumin levels are decreased only in males

decreased circulating total protein level ( J:237904 )

♂ • total protein is decreased only in males

improved glucose tolerance ( J:237904 )

• in a glucose tolerance test, basal fasting glucose levels are decreased

decreased urine glucose level ( J:237904 )

• slightly lower

decreased urine protein level ( J:237904 )

• slightly lower

decreased urine albumin level ( J:237904 )

• slightly lower

• however, urinary concentrations of electrolytes and urea are normal

decreased urine uric acid level ( J:237904 )

• significantly lower

abnormal enzyme/coenzyme activity ( J:237904 )

• increase in plasma alpha-amylase activities

increased alkaline phosphatase activity ( J:237904 )

• alkaline phosphatase activities are increased with effects getting weaker with age

limbs/digits/tail

abnormal digit morphology ( J:237904 )

• abnormal digit positioning

fused phalanges ( J:237904 )

• proximal and middle phalanges in digit II start to be fused

abnormal tarsal bone morphology ( J:237904 )

• tarsal bones are enlarged due to hyper-ossification

short femur ( J:237904 )

abnormal metacarpal bone morphology ( J:237904 )

• metacarpal bones are enlarged due to hyper-ossification

abnormal metatarsal bone morphology ( J:237904 )

• metatarsal bones are enlarged due to hyper-ossification

short tail ( J:237904 )

kinked tail ( J:237904 )

renal/urinary system

decreased urine creatinine level ( J:237904 )

• slightly lower

decreased urine glucose level ( J:237904 )

• slightly lower

decreased urine protein level ( J:237904 )

• slightly lower

decreased urine albumin level ( J:237904 )

• slightly lower

• however, urinary concentrations of electrolytes and urea are normal

decreased urine uric acid level ( J:237904 )

• significantly lower

abnormal renal filtration ( J:237904 )

• 24 hour excretion values per 25 g body mass and fractional excretion rates are increased for electrolytes sodium, potassium, chloride, calcium, urea, total protein, albumin and glucose

polyuria ( J:237904 )

• urine production in relation to body mass increased

respiratory system

decreased pulmonary respiratory rate ( J:237904 )

♀ • decrease in respiration rate in females

skeleton

abnormal temporal bone morphology ( J:237904 )

• part of the temporal bone exhibits an irregular shape

abnormal middle ear ossicle morphology ( J:237904 )

• ossicles of the middle ear have an altered shape

abnormal malleus morphology ( J:237904 )

• the body and head of the malleus are decreased in size

abnormal malleus head morphology ( J:237904 )

• decrease in size of the malleus head

small middle ear ossicles ( J:237904 )

• ossicles of the middle ear are decreased in size

small incus ( J:237904 )

• incus is smaller

fused phalanges ( J:237904 )

• proximal and middle phalanges in digit II start to be fused

abnormal tarsal bone morphology ( J:237904 )

• tarsal bones are enlarged due to hyper-ossification

short femur ( J:237904 )

abnormal metacarpal bone morphology ( J:237904 )

• metacarpal bones are enlarged due to hyper-ossification

abnormal metatarsal bone morphology ( J:237904 )

• metatarsal bones are enlarged due to hyper-ossification

abnormal pectoral girdle bone morphology ( J:237904 )

• in the appendicular skeleton, the coracoid processes show hyper-ossification

rib fusion ( J:237904 )

• low penetrance (3%) of rib fusions

abnormal thoracic vertebrae morphology ( J:237904 )

• malformations of the thoracic vertebrae

• in some thoracic vertebrae, ossification centers are split

abnormal lumbar vertebrae morphology ( J:237904 )

• malformations of the lumbar vertebrae

abnormal vertebral pedicle morphology ( J:237904 )

• ossification center and pedicles in the thoracic, lumbar, and sacral vertebrae are more closed and fused compared to wild-type mice

decreased bone mineral content ( J:237904 )

• bone mineral content is decreased, but results might be confounded by body weight

decreased bone mineral density ( J:237904 )

• bone mineral density is decreased, but results might be confounded by body weight

abnormal bone ossification ( J:237904 )

• multiple hyper-ossifications are seen in the axial and appendicular skeleton

• hyper-ossification is first detected at E17.5, suggesting that malformations are due to defects in bone growth but not disturbed embryonic patterning

increased bone resorption ( J:237904 )

• at 1 year of age, mice show an increase of the bone resorption marker CTX-1