All Phenotypes Rpl38<Ts> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rpl38^Ts/Rpl38^Ts	BALB/c-Rpl38^Ts	MGI:3793348
ht2	Rpl38^Ts/Rpl38⁺	(BALB/c x A)F1	MGI:3794072
ht3	Rpl38^Ts/Rpl38⁺	(BALB/c x C3H)F1	MGI:3794064
ht4	Rpl38^Ts/Rpl38⁺	(BALB/c x C57BL)F1	MGI:3794083
ht5	Rpl38^Ts/Rpl38⁺	(BALB/c x C57BR)F1	MGI:3794082
ht6	Rpl38^Ts/Rpl38⁺	(BALB/c x DBA)F1	MGI:3794077
ht7	Rpl38^Ts/Rpl38⁺	(BALB/c x I)F1	MGI:3794081
ht8	Rpl38^Ts/Rpl38⁺	(BALB/c x L)F1	MGI:3794079
ht9	Rpl38^Ts/Rpl38⁺	(BALB/c x Y)F1	MGI:3794080
ht10	Rpl38^Ts/Rpl38⁺	(TSJ/Le x A/JSlc)F1	MGI:3793495
ht11	Rpl38^Ts/Rpl38⁺	(TSJ/Le x AKR/J)F1	MGI:3793498
ht12	Rpl38^Ts/Rpl38⁺	(TSJ/Le x C3.SW-H2^b/SnJ)F1	MGI:3793497
ht13	Rpl38^Ts/Rpl38⁺	(TSJ/Le x C57BL/6JJcl)F1	MGI:3793490
ht14	Rpl38^Ts/Rpl38⁺	(TSJ/Le x CBA/J)F1	MGI:3793496
ht15	Rpl38^Ts/Rpl38⁺	BALB/c-Rpl38^Ts	MGI:3793281
ht16	Rpl38^Ts/Rpl38⁺	involves: BALB/c	MGI:3793486
ht17	Rpl38^Ts/Rpl38⁺	TSJ/Le	MGI:3795975

Allelic Composition	Rpl38^Ts/Rpl38^Ts
Genetic Background	BALB/c-Rpl38^Ts

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl38^Ts mutation (2 available); any Rpl38 mutation (18 available)

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

mortality/aging

embryonic lethality at implantation, incomplete penetrance ( J:6315 , J:15012 )

• at embryonic day 4.5 of heterozygous intercrosses there are fewer than the Mendelian expected 25% abnormal, presumed homozygous, embryos and the litter size is reduced suggesting the loss of some homozygotes between embryonic days 3.5 and 4.5 (J:6315)

• the number of implantations at 7 and 8 days of pregnancy in heterozygous intercrosses is a quarter less than normal indicating that homozygotes die before implantation or soon afterwards (J:15012)

embryonic lethality, complete penetrance ( J:13063 )

• all are detectable as unhealthy morula at embryonic day 3.5 and are dead by E5.5

• in vitro culturing does not rescue embryos

cellular

abnormal nucleolus morphology ( J:6315 )

• in embryonic day 3.5 presumed homozygous embryos nucleoli appear very ragged in outline and irregularly distribted in th nucleoplasm

embryo

abnormal preimplantation embryo development ( J:6315 )

• retarded cell division begins after the third cleavage such that there are only half the normal number of cells on embryonic day 3.5 and 20% the normal number on embryonic day 4.5

embryonic growth arrest ( J:6315 )

• at embryonic day 3.5 there are approximately 13.7 cells per embryo instead of the normal 30.3, haematoxylin staining is much more pale, and the nucleoli often appear ragged in outline and irregularly ditributed throughout the nucleoplasm

• at embryonic day 4.5 presumed homozygotes are retarded in developmental stage and cell number such that there is no clear delineation into inner cell mass and trophoblast, and these presumed homozygotes do not show signs of invasiveness when littermates are undergoing uterine attachment

• at embryonic day 5.5 there are very few abnormal embryos compared with earlier timepoints and these are in various stages of degeneration

• embryonic culture beginning at approximately day 3.5 confirms the in vivo findings

embryonic growth retardation ( J:6315 )

decreased embryo size ( J:6315 )

• due to reduced number of embryonic cells

abnormal blastocyst morphology ( J:6315 )

abnormal blastocoele morphology ( J:6315 )

absent blastocoele ( J:6315 )

• at embryonic day 3.5 presumed homozygotes have not formed a blastocoele

growth/size/body

embryonic growth retardation ( J:6315 )

decreased embryo size ( J:6315 )

• due to reduced number of embryonic cells

Allelic Composition	Rpl38^Ts/Rpl38⁺
Genetic Background	(BALB/c x A)F1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl38^Ts mutation (2 available); any Rpl38 mutation (18 available)

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

mortality/aging

embryonic lethality, complete penetrance ( J:13063 )

• Background Sensitivity: no mutant offspring were found in this cross and litters average 3.53 pups instead of 7.74, so tail short is believed to be a complete heterozygous lethal when crossed to the A inbred background

Allelic Composition	Rpl38^Ts/Rpl38⁺
Genetic Background	(BALB/c x C3H)F1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl38^Ts mutation (2 available); any Rpl38 mutation (18 available)

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:13063 )

• Background Sensitivity: half of the tailless mutants are born dead and some of these are almost devoid of blood and sometimes lack vescera

limbs/digits/tail

abnormal digit morphology ( J:13063 )

• frequency is approximately 80% on the left forefoot, 10-15% on the right forefoot, and less than 10% on the hindfeet

oligodactyly ( J:13063 )

polydactyly ( J:13063 )

• more common than oligodactyly and nearly always present in tailless heterozygotes

abnormal forelimb morphology ( J:13063 )

• on occassion foreleg shortened and turned mediad such that it resembles a flipper

absent caudal vertebrae ( J:13063 )

absent tail ( J:13063 )

• Background Sensitivity: none of the (BALB/c x C3H)F1 mice have tails, far more severe than the short tail phenotype of the BALB/c background

growth/size/body

abnormal nasal bone morphology ( J:13063 )

• non-fusion of the nasals at the anterior end of the skull is often found

decreased body length ( J:13063 )

• Background Sensitivity: shorter than heterozygotes on the BALB/c background and only approximnately two-thirds the body length of wildtype F1 controls

skeleton

decreased cranium height ( J:13063 )

• Background Sensitivity: in all of the tailless subset

increased cranium width ( J:13063 )

• Background Sensitivity: in all of the tailless subset

abnormal nasal bone morphology ( J:13063 )

• non-fusion of the nasals at the anterior end of the skull is often found

absent caudal vertebrae ( J:13063 )

reproductive system

reduced fertility ( J:13063 )

• Background Sensitivity: none of the 4 surviving tailless heterozygotes bred; the one surviving female tailless heterozygote birthed one litter of 3 pups then died

hematopoietic system

anemia ( J:13063 )

nervous system

incomplete rostral neuropore closure ( J:13063 )

• Background Sensitivity: some of the tailless subset are found to have spina bifida and even a dorsal cephalic opening due to failure of cranial fusion over the brain

spina bifida ( J:13063 )

• Background Sensitivity: in some of the tailless subset

pigmentation

irregular coat pigmentation ( J:13063 )

• Background Sensitivity: tailless subset of mutants have white hairs on the front legs that looks like white stockings

belly spot ( J:13063 )

craniofacial

decreased cranium height ( J:13063 )

• Background Sensitivity: in all of the tailless subset

increased cranium width ( J:13063 )

• Background Sensitivity: in all of the tailless subset

abnormal nasal bone morphology ( J:13063 )

• non-fusion of the nasals at the anterior end of the skull is often found

embryo

incomplete rostral neuropore closure ( J:13063 )

• Background Sensitivity: some of the tailless subset are found to have spina bifida and even a dorsal cephalic opening due to failure of cranial fusion over the brain

spina bifida ( J:13063 )

• Background Sensitivity: in some of the tailless subset

integument

irregular coat pigmentation ( J:13063 )

• Background Sensitivity: tailless subset of mutants have white hairs on the front legs that looks like white stockings

belly spot ( J:13063 )

respiratory system

abnormal nasal bone morphology ( J:13063 )

• non-fusion of the nasals at the anterior end of the skull is often found

Allelic Composition	Rpl38^Ts/Rpl38⁺
Genetic Background	(BALB/c x C57BL)F1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl38^Ts mutation (2 available); any Rpl38 mutation (18 available)

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

limbs/digits/tail

short tail ( J:13063 )

• Background Sensitivity: this hybrid background yields a very mild phenotype such that more than half of the mutants are have a normal body length at birth and they have a less kinked, longer tail than the mutants do on the pure BALB/c background

Allelic Composition	Rpl38^Ts/Rpl38⁺
Genetic Background	(BALB/c x C57BR)F1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl38^Ts mutation (2 available); any Rpl38 mutation (18 available)

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

limbs/digits/tail

short tail ( J:13063 )

• Background Sensitivity: this hybrid background yields a slightly milder phenotype such that most mutants have a phenotype similar to that on the pure BALB/c background, but a few have tails longer than one-half normal length

Allelic Composition	Rpl38^Ts/Rpl38⁺
Genetic Background	(BALB/c x DBA)F1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl38^Ts mutation (2 available); any Rpl38 mutation (18 available)

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

limbs/digits/tail

absent tail ( J:13063 )

• Background Sensitivity: no short tailed mice are generated, only a small number of tailless mice indicating a more severe expressivity with the DBA background

Allelic Composition	Rpl38^Ts/Rpl38⁺
Genetic Background	(BALB/c x I)F1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl38^Ts mutation (2 available); any Rpl38 mutation (18 available)

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

limbs/digits/tail

short tail ( J:13063 )

• Background Sensitivity: the phenotype is similar to that found in pure BALB/c

Allelic Composition	Rpl38^Ts/Rpl38⁺
Genetic Background	(BALB/c x L)F1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl38^Ts mutation (2 available); any Rpl38 mutation (18 available)

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

limbs/digits/tail

short tail ( J:13063 )

• Background Sensitivity: the phenotype is similar to that found in pure BALB/c

Allelic Composition	Rpl38^Ts/Rpl38⁺
Genetic Background	(BALB/c x Y)F1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl38^Ts mutation (2 available); any Rpl38 mutation (18 available)

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

limbs/digits/tail

short tail ( J:13063 )

• Background Sensitivity: the phenotype is similar to that found on the pure BALB/c background regardless of the presence or absence of lethal yellow

Allelic Composition	Rpl38^Ts/Rpl38⁺
Genetic Background	(TSJ/Le x A/JSlc)F1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl38^Ts mutation (2 available); any Rpl38 mutation (18 available)

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

mortality/aging

postnatal lethality, complete penetrance ( J:47940 )

• Background Sensitivity: the short tail phenotype is entirely missing from litters at wean age and litters are smaller than normal

Allelic Composition	Rpl38^Ts/Rpl38⁺
Genetic Background	(TSJ/Le x AKR/J)F1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl38^Ts mutation (2 available); any Rpl38 mutation (18 available)

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

mortality/aging

postnatal lethality, complete penetrance ( J:47940 )

• Background Sensitivity: the short tail phenotype is entirely missing from litters at wean age and litters are smaller than normal

Allelic Composition	Rpl38^Ts/Rpl38⁺
Genetic Background	(TSJ/Le x C3.SW-H2^b/SnJ)F1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl38^Ts mutation (2 available); any Rpl38 mutation (18 available)

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

mortality/aging

postnatal lethality, complete penetrance ( J:47940 )

• Background Sensitivity: the short tail phenotype is entirely missing from litters at wean age and litters are smaller than normal

Allelic Composition	Rpl38^Ts/Rpl38⁺
Genetic Background	(TSJ/Le x C57BL/6JJcl)F1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl38^Ts mutation (2 available); any Rpl38 mutation (18 available)

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

limbs/digits/tail

short tail ( J:47940 )

• Background Sensitivity: the outcross to a C57BL/6J background resulted in a shorter average tail length than on the pure TSJ/Le background

Allelic Composition	Rpl38^Ts/Rpl38⁺
Genetic Background	(TSJ/Le x CBA/J)F1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl38^Ts mutation (2 available); any Rpl38 mutation (18 available)

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

mortality/aging

postnatal lethality, complete penetrance ( J:47940 )

• Background Sensitivity: the short tail phenotype is entirely missing from litters at wean age and litters are smaller than normal

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:15012 )

• normal segregation at embryonic day 17 from matings of heterozygote x wildtype, but less than Mendelian predicted ratio at birth

craniofacial

decreased cranium height ( J:15012 )

• in the short-snouted heterozygotes

increased cranium width ( J:15012 )

• greater width of the frontal bones

abnormal nasal cavity morphology ( J:15012 )

• nasals are short, malformed and usually fused to the frontals, and the nasal processes are greadly reduced and sometimes bent sideways

short snout ( J:15012 )

• in the most severely affected

growth/size/body

abnormal nasal cavity morphology ( J:15012 )

• nasals are short, malformed and usually fused to the frontals, and the nasal processes are greadly reduced and sometimes bent sideways

short snout ( J:15012 )

• in the most severely affected

embryonic growth retardation ( J:15012 )

• by embryonic day 14 there is a developmental delay of approximately 1 day, but by embyronic day 17 this delay is decreased

decreased body size ( J:15012 )

• evident as early as embryonic day 9

decreased body weight ( J:15012 )

• mutants weigh considerably less at birth and this persists throughout life

decreased body length ( J:13063 )

• slightly shortened body length of 85-95 mm versus 101 mm wildtype

limbs/digits/tail

abnormal autopod morphology ( J:13063 , J:15012 )

• in a few cases the front paw is shortened and turned inward resembling a flipper (J:15012)

abnormal humerus morphology ( J:15012 )

short humerus ( J:15012 )

short radius ( J:15012 )

short femur ( J:15012 )

short tibia ( J:15012 )

abnormal metacarpal bone morphology ( J:15012 )

• feet can have fusions, absence of bones, and extra phalanges

abnormal metatarsal bone morphology ( J:15012 )

caudal vertebral fusion ( J:13063 , J:15012 )

• common in heterozygotes and take place at all angles (J:15012)

decreased caudal vertebrae number ( J:13063 , J:15012 )

• there are fewer caudal vertebrae than normal and these are smaller than normal (J:15012)

small caudal vertebrae ( J:15012 )

short tail ( J:13063 , J:15012 )

• variable tail length ranging from 8-45 mm versus 103 mm for wildtype, but no tailless mice found (J:13063)

• varied penetrance, tail ranges from a small stump to approximately seven-eighths normal length (J:15012)

curly tail ( J:15012 )

kinked tail ( J:13063 , J:15012 )

• varying number of flexures due to irregular fusion of the vertebrae (J:13063)

• the tail is usually kinked and sometimes curled (J:15012)

embryo

abnormal placenta vasculature ( J:15012 )

abnormal vitelline vasculature morphology ( J:15012 )

• blood vessels are paler, thinner, fewer in the placenta and yolk sac

embryonic growth retardation ( J:15012 )

• by embryonic day 14 there is a developmental delay of approximately 1 day, but by embyronic day 17 this delay is decreased

abnormal neural tube morphology ( J:15012 )

• although nornmal at embryonic day 9, at embryonic day 10 to 11 the neural tube and notochord change shape, thickness and position several times along the length of the tail and the last somite is closer than normal to the tail tip. The neural tube is not affected in the trunk region until embryonic day 12 to 13 when it is thinner and when there are significant irregularities of shape and position of the notochord and neural tube.

abnormal neuromere morphology ( J:15012 )

wavy neural tube ( J:15012 )

abnormal notochord morphology ( J:15012 )

skeleton

decreased cranium height ( J:15012 )

• in the short-snouted heterozygotes

increased cranium width ( J:15012 )

• greater width of the frontal bones

abnormal humerus morphology ( J:15012 )

abnormal metacarpal bone morphology ( J:15012 )

• feet can have fusions, absence of bones, and extra phalanges

abnormal metatarsal bone morphology ( J:15012 )

decreased caudal vertebrae number ( J:13063 , J:15012 )

• there are fewer caudal vertebrae than normal and these are smaller than normal (J:15012)

small caudal vertebrae ( J:15012 )

decreased length of long bones ( J:15012 )

• the length of the left humerus is shorter and the length of the right tibia is shorter than normal resulting in lopsided leg length, and the radius and femur are also shortened in some instances

short humerus ( J:15012 )

short radius ( J:15012 )

short femur ( J:15012 )

short tibia ( J:15012 )

abnormal sternebra morphology ( J:15012 )

• in some heterozygotes the fifth sternebra appears to have been formed from two separate elements

increased sternebra number ( J:15012 )

• an extra sternebra is found in some heterozygotes

sternebra fusion ( J:15012 )

• sternebrae fusions are found in some heterozygotes

increased rib number ( J:15012 )

• an additional pair of ribs is found along with the increase in thoracic vertebrae

rib fusion ( J:15012 )

increased thoracic vertebrae number ( J:15012 )

• heterozygotes usually have 14 instead of the usual 13 thoracic vertebrae

abnormal sacral vertebrae morphology ( J:15012 )

• 4th sacral vertebrae often often has laterally directed transverse processes and well defined alae sacrales whereas normally the 4th sacral vertebrae has anteriorly directed transverse processes without well defined alae sacrales

abnormal vertebrae development ( J:15012 )

• gaps in the vertebral arch or centrum

vertebral fusion ( J:15012 )

• the vertebrae most susceptible to fusion are cervical 3 and 4 and thoracic 9, 10, and 11

caudal vertebral fusion ( J:13063 , J:15012 )

• common in heterozygotes and take place at all angles (J:15012)

hematopoietic system

anemia ( J:15012 )

• anemia is reported from embryonic day 9, pronounced at embryonic day 14, but newborns are not anemic

cardiovascular system

abnormal placenta vasculature ( J:15012 )

abnormal vitelline vasculature morphology ( J:15012 )

• blood vessels are paler, thinner, fewer in the placenta and yolk sac

abnormal heart development ( J:15012 )

• at embryonic day 12 to 13 the atrium is abnormally large, the verntricle abnormally small, the walls of the ventricle are thin and the trabeculae poorly developed, but the heart is normal at embryonic day 17

respiratory system

abnormal nasal cavity morphology ( J:15012 )

• nasals are short, malformed and usually fused to the frontals, and the nasal processes are greadly reduced and sometimes bent sideways

nervous system

abnormal neural tube morphology ( J:15012 )

abnormal neuromere morphology ( J:15012 )

wavy neural tube ( J:15012 )

abnormal olfactory bulb morphology ( J:15012 )

• the brain is shortened longitudinally especially the olfactory region

Allelic Composition	Rpl38^Ts/Rpl38⁺
Genetic Background	involves: BALB/c

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl38^Ts mutation (2 available); any Rpl38 mutation (18 available)

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

embryo

abnormal notochord morphology ( J:803 )

• histology at embyronic day 9.5 shows many sections of the perinotochordal sheath are normal while nearby sections have varying degrees of disintegration of the notochordal sheath

• lateral defelection of the notocord also confirmed at embryonic day 9.5

Allelic Composition	Rpl38^Ts/Rpl38⁺
Genetic Background	TSJ/Le

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl38^Ts mutation (2 available); any Rpl38 mutation (18 available)

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

limbs/digits/tail

short tail ( J:6184 , J:168509 )

• as early as embryonic day 11 (J:6184)

hematopoietic system

hematopoietic system phenotype ( J:6184 )

N	• the changes in the three hemoglobins expressed during fetal development from embryonic day 10 to 15 are normal

abnormal embryonic erythropoiesis ( J:6184 )

• embryonic day 12-14 primitive nucleated erythrocytes have less hemoglobin content per cell than normal

• embryonic day 11-13 primitive nucleated erythrocytes have increased mitotic indices

• embryonic day 13 only 7% of the circulating cells are small non-nucleated erythrocytes compared with one third of the circulating cells in wildtype controls

• delayed fetal hepatic erythropoiesis wherein embyronic day 12 mutants have primarily immature erythroid precursors and wildtype controls have many immature and mature erythroblasts

hearing/vestibular/ear

abnormal middle ear morphology ( J:168509 )

• excess deposition of fine crystals frequently filling the entire cavity

• in some cases crystals surround and even cover the stapes

abnormal oval window morphology ( J:168509 )

• at 3 weeks of age large aggregates of fine crystals are often seen within the round window and at the oval window

abnormal round window morphology ( J:168509 )

• at 3 weeks of age large aggregates of fine crystals are often seen within the round window and at the oval window

• at 3 weeks of age locally restricted neo-ossification is seen on the round window ridge

• at 11 weeks of age there is a 1.5 fold increase in the volume of ectopic endochondral bone on the round window ridge

abnormal auditory tube morphology ( J:168509 )

• enlarged at 3, 4, 12 and 36 weeks of age

abnormal hearing physiology ( J:168509 )

increased or absent threshold for auditory brainstem response ( J:168509 )

• increased thresholds to click and 8 kHz stimuli at 4 weeks of age

• at 8 weeks of age thresholds are increased at 8, 16, and 32 kHz, the average increase is 28db

abnormal distortion product otoacoustic emission ( J:168509 )

• decrease in emissions at the tone 1 = 75 db stimulus level over a wide range of frequencies at 3 weeks of age

conductive hearing loss ( J:168509 )

increased susceptibility to otitis media ( J:168509 )

• chronic inflammation with effusion

• at 2 weeks of age the periosteal layer appears dilated, swollen, and delaminated from the underlying bone

• inflammation persists at 36 and 56 weeks of age

craniofacial

abnormal oval window morphology ( J:168509 )

• at 3 weeks of age large aggregates of fine crystals are often seen within the round window and at the oval window

abnormal round window morphology ( J:168509 )

• at 3 weeks of age large aggregates of fine crystals are often seen within the round window and at the oval window

• at 3 weeks of age locally restricted neo-ossification is seen on the round window ridge

• at 11 weeks of age there is a 1.5 fold increase in the volume of ectopic endochondral bone on the round window ridge

short snout ( J:168509 )

growth/size/body

short snout ( J:168509 )

embryonic growth retardation ( J:6184 )

• at embryonic day 11 mutants and wildtype can not be readily distinguished by growth retardation, but at embryonic day 12 mutants are clearly smaller and an approximately 1 day delay in development persists and is evident in reduced fetal weight and placental weight

• although the total hemoglobin content is lower in age matched mutant and wildtype embryos the ratio of hemoglobin content to embryo weight is normal indicating that the diminished hemoglobin level is part of the embryonic growth retardation

decreased body weight ( J:168509 )

• at 8 weeks of age

omphalocele ( J:6184 )

• in a small number of embryos

nervous system

anencephaly ( J:6184 )

• in a small number of embryos

homeostasis/metabolism

increased circulating phosphate level ( J:168509 )

• increase in organic phosphate levels

embryo

embryonic growth retardation ( J:6184 )

abnormal embryonic erythropoiesis ( J:6184 )

• embryonic day 12-14 primitive nucleated erythrocytes have less hemoglobin content per cell than normal

• embryonic day 11-13 primitive nucleated erythrocytes have increased mitotic indices

• embryonic day 13 only 7% of the circulating cells are small non-nucleated erythrocytes compared with one third of the circulating cells in wildtype controls

• delayed fetal hepatic erythropoiesis wherein embyronic day 12 mutants have primarily immature erythroid precursors and wildtype controls have many immature and mature erythroblasts

immune system

increased susceptibility to otitis media ( J:168509 )

• chronic inflammation with effusion

• at 2 weeks of age the periosteal layer appears dilated, swollen, and delaminated from the underlying bone

• inflammation persists at 36 and 56 weeks of age

skeleton

abnormal oval window morphology ( J:168509 )

• at 3 weeks of age large aggregates of fine crystals are often seen within the round window and at the oval window

abnormal round window morphology ( J:168509 )

• at 3 weeks of age large aggregates of fine crystals are often seen within the round window and at the oval window

• at 3 weeks of age locally restricted neo-ossification is seen on the round window ridge

• at 11 weeks of age there is a 1.5 fold increase in the volume of ectopic endochondral bone on the round window ridge

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
otitis media		DOID:10754		J:168509

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24